Mouse models of human disease. Part II: recent progress and future directions.

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

p53 Mutations in Human Cancers

1991 • 8,133 citations

The p53 tumour suppressor gene

1991 • 3,871 citations

Lymphoproliferation disorder in mice explained by defects in Fas antigen that mediates apoptosis

1992 • 2,932 citations

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

1993 • 2,884 citations

RAG-1-deficient mice have no mature B and T lymphocytes

1992 • 2,859 citations

Identification and characterization of the familial adenomatous polyposis coli gene

1991 • 2,806 citations

A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

1995 • 2,767 citations

Mutations in the p53 gene occur in diverse human tumour types

1989 • 2,765 citations

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1991 • 2,763 citations

RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement

1992 • 2,618 citations

Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein

1995 • 2,456 citations

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

1993 • 2,282 citations

Mutation in the DNA mismatch repair gene homologue hMLH 1 is associated with hereditary non-polyposis colon cancer

1994 • 2,071 citations

WT-1 is required for early kidney development

1993 • 1,976 citations

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

1993 • 1,941 citations

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1994 • 1,698 citations

COLLAGENS: Molecular Biology, Diseases, and Potentials for Therapy

1995 • 1,599 citations

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

1994 • 1,589 citations

Role of the INK4a Locus in Tumor Suppression and Cell Mortality

1996 • 1,580 citations

Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery.

1993 • 1,578 citations

Generalized lymphoproliferative disease in mice, caused by a point mutation in the fas ligand

1994 • 1,549 citations

Mutations of two P/WS homologues in hereditary nonpolyposis colon cancer

1994 • 1,544 citations

Multiple Intestinal Neoplasia Caused by a Mutation in the Murine Homolog of the APC Gene

1992 • 1,510 citations

Dominant interfering fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

1995 • 1,477 citations

Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia

1996 • 1,467 citations

An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria

1995 • 1,424 citations

W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity

1995 • 1,398 citations

Mutations in Fas Associated with Human Lymphoproliferative Syndrome and Autoimmunity

1995 • 1,306 citations

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC

1993 • 1,273 citations

Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury

1996 • 1,261 citations

Germline p16 mutations in familial melanoma

1994 • 1,241 citations

Insulin-Dependent Diabetes Mellitus

1996 • 1,171 citations

The Molecular Basis of Muscular Dystrophy in the mdx Mouse: a Point Mutation

1989 • 1,171 citations

LEUKOCYTE ADHESION DEFICIENCY: An Inherited Defect in the Mac-1, LFA-1, and p150,95 Glycoproteins

1987 • 1,147 citations

Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth

1996 • 1,062 citations

Defective myosin VIIA gene responsible for Usher syndrome type IB

1995 • 1,051 citations

Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1993 • 1,038 citations

Fmr1 knockout mice: A model to study fragile X mental retardation

1994 • 1,007 citations

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

1994 • 1,000 citations

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

1994 • 934 citations

Mouse model of X–linked chronic granulomatous disease, an inherited defect in phagocyte superoxide production

1995 • 920 citations

A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease

1994 • 886 citations

Lymphoid development in mice with a targeted deletion of the interleukin 2 receptor gamma chain.

1995 • 881 citations

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3

1996 • 867 citations

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

1995 • 843 citations

Retinal degeneration in the rd mouse is caused by a defect in the β subunit of rod cGMP-phosphodiesterase

1990 • 841 citations

Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein

1995 • 835 citations

Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage

1995 • 829 citations

Prion protein is necessary for normal synaptic function

1994 • 802 citations

Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over

1996 • 800 citations

Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer

1995 • 785 citations

fgfr-1 is required for embryonic growth and mesodermal patterning during mouse gastrulation.

1994 • 784 citations

Tumour predisposition in mice heterozygous for a targeted mutation in Nf1

1994 • 777 citations

Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

1995 • 774 citations

Murine FGFR-1 is required for early postimplantation growth and axial organization.

1994 • 748 citations

Genetic Analysis of Autoimmune Disease

1996 • 739 citations

A mouse model of Greig cephalo–polysyndactyly syndrome: the extra–toesJ mutation contains an intragenic deletion of the Gli3 gene

1993 • 715 citations

Inactivation of the Mouse Huntington's Disease Gene Homolog Hdh

1995 • 705 citations

MyoD is required for myogenic stem cell function in adult skeletal muscle.

1996 • 705 citations

Mouse Models of Atherosclerosis

1996 • 701 citations

Decreased atherosclerosis in mice deficient in both macrophage colony-stimulating factor (op) and apolipoprotein E.

1995 • 700 citations

Apolipoprotein E and Alzheimer disease.

1995 • 697 citations

β-amyloid precursor protein-deficient mice show reactive gliosis and decreased locomotor activity

1995 • 686 citations

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

1994 • 683 citations

A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

1993 • 677 citations

A type VII myosin encoded by the mouse deafness gene shaker-1

1995 • 674 citations

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

1993 • 664 citations

Altered circadian activity rhythms and sleep in mice devoid of prion protein

1996 • 655 citations

The Tumor Suppressor Gene Brca1 Is Required for Embryonic Cellular Proliferation in the Mouse

1996 • 652 citations

Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues.

1994 • 634 citations

Targeted disruption of metallothionein I and II genes increases sensitivity to cadmium.

1994 • 624 citations

Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy

1995 • 615 citations

A mouse model of human familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

1995 • 596 citations

Genetic Control of Autoimmune Diabetes in the Nod Mouse

1995 • 586 citations

SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat

1995 • 582 citations

Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1993 • 573 citations

The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia

1995 • 566 citations

Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13

1996 • 565 citations

Identification of a nonsense mutation in the rod photoreceptor cGMP phosphodiesterase beta-subunit gene of the rd mouse.

1991 • 558 citations

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

1991 • 549 citations

Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo

1996 • 546 citations

Humoral immune responses in CD40 ligand-deficient mice.

1994 • 541 citations

Mutations in the α1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

1993 • 540 citations

Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I

1996 • 540 citations

Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis

1995 • 536 citations

Identification of the homologous beige and Chediak–Higashi syndrome genes

1996 • 536 citations

RAG Mutations in Human B Cell-Negative SCID

1996 • 530 citations

Age-related CNS disorder and early death in transgenic FVB/N mice overexpressing Alzheimer amyloid precursor proteins

1995 • 521 citations

The Alzheimer's Aβ peptide induces neurodegeneration and apoptotic cell death in transgenic mice

1995 • 517 citations

The mouse Snell's waltzer deafness gene encodes an unconventional myosin required for structural integrity of inner ear hair cells

1995 • 507 citations

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia

1996 • 500 citations

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

1994 • 489 citations

Loss of cerebellar Purkinje cells in aged mice homozygous for a disrupted PrP gene

1996 • 483 citations

Molecular basis of the little mouse phenotype and Implications for cell type-specific growth

1993 • 477 citations

Neural progenitor cell engraftment corrects lysosomal storage throughout the MRS VII mouse brain

1995 • 475 citations

Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease

1995 • 469 citations

Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

1996 • 468 citations

Prevention of Atherosclerosis in Apolipoprotein E-Deficient Mice by Bone Marrow Transplantation

1995 • 467 citations

Defective axonal transport in a transgenic mouse model of amyotrophic lateral sclerosis

1995 • 464 citations

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

1995 • 464 citations

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

1994 • 458 citations

Disruption of the Hoxd-13 gene induces localized heterochrony leading to mice with neotenic limbs

1993 • 454 citations

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1996 • 449 citations

A Mutation in the POU-Homeodomain of Pit-1 Responsible for Combined Pituitary Hormone Deficiency

1992 • 446 citations

Correction of the ion transport defect in cystic fibrosis transgenic mice by gene therapy

1993 • 439 citations

Mouse models of Tay–Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

1995 • 438 citations

Influence of PAX6 Gene Dosage on Development: Overexpression Causes Severe Eye Abnormalities

1996 • 435 citations

Genetic Animal Models of Alcohol and Drug Abuse

1994 • 435 citations

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis

1994 • 423 citations

The two-receptor model of lipoprotein clearance: tests of the hypothesis in "knockout" mice lacking the low density lipoprotein receptor, apolipoprotein E, or both proteins.

1994 • 415 citations

Neurodegeneration in the Central Nervous System of apoE-Deficient Mice

1995 • 403 citations

GHRH receptor of little mice contains a missense mutation in the extracellular domain that disrupts receptor function

1993 • 399 citations

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

1989 • 399 citations

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1995 • 398 citations

Transgenic mice carrying a human mutant superoxide dismutase transgene develop neuronal cytoskeletal pathology resembling human amyotrophic lateral sclerosis lesions.

1996 • 397 citations

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

1996 • 395 citations

Mice lacking tissue non–specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B–6

1995 • 391 citations

High incidence of lung, bone, and lymphoid tumors in transgenic mice overexpressing mutant alleles of the p53 oncogene.

1989 • 383 citations

MSH2 deficient mice are viable and susceptible to lymphoid tumours

1995 • 378 citations

Germline mutations in the thyrotropin receptor gene cause non–autoimmune autosomal dominant hyperthyroidism

1994 • 376 citations

Inefficient gene transfer by adenovirus vector to cystic fibrosis airway epithelia of mice and humans

1994 • 373 citations

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

1995 • 370 citations

Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

1994 • 368 citations

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1995 • 360 citations

The genetics of pigmentation: from fancy genes to complex traits

1996 • 360 citations

The kit-ligand (steel factor) and its receptor c-kit/W: pleiotropic roles in gametogenesis and melanogenesis

1993 • 355 citations

Amyotrophic lateral sclerosis: Recent insights from genetics and transgenic mice

1995 • 353 citations

Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.

1993 • 348 citations

Murine muscular dystrophy caused by a mutation in the laminin α2 (Lama2) gene

1994 • 346 citations

Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy

1996 • 346 citations

A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment

1994 • 338 citations

Defective pro alpha 2(I) collagen synthesis in a recessive mutation in mice: a model of human osteogenesis imperfecta.

1993 • 333 citations

Age-related learning deficits in transgenic mice expressing the 751-amino acid isoform of human beta-amyloid precursor protein.

1995 • 333 citations

Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice

1996 • 332 citations

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer

1994 • 329 citations

Protein zero (P0)–deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1995 • 314 citations

Photoreceptor cell rescue in retinal degeneration (rd) mice by in vivo gene therapy

1996 • 313 citations

Inactivation of the integrin beta 6 subunit gene reveals a role of epithelial integrins in regulating inflammation in the lung and skin.

1996 • 312 citations

Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse

1996 • 310 citations

Behavioral and anatomical deficits in mice homozygous for a modified ?-amyloid precursor protein gene

1994 • 307 citations

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1996 • 303 citations

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

1992 • 301 citations

Fibroblast-growth-factor receptor mutations in human skeletal disorders

1995 • 300 citations

Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus.

1994 • 299 citations

Mice lacking alpha 1 (IX) collagen develop noninflammatory degenerative joint disease.

1994 • 297 citations

Cystic fibrosis in the mouse by targeted insertional mutagenesis

1992 • 293 citations

A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.

1996 • 290 citations

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

1995 • 286 citations

Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity

1993 • 281 citations

ApcMin: A mouse model for intestinal and mammary tumorigenesis

1995 • 281 citations

A targeted mutation at the known collagenase cleavage site in mouse type I collagen impairs tissue remodeling.

1995 • 280 citations

MOLECULAR AND DEVELOPMENTAL GENETICS OF MOUSE COAT COLOR

1994 • 280 citations

Hyperuricemia and Gout

1979 • 276 citations

Quantitative locus analysis of airway hyperresponsiveness in A/J and C57BL/6J mice

1995 • 275 citations

Hyperuricemia and urate nephropathy in urate oxidase-deficient mice.

1994 • 273 citations

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

1995 • 263 citations

Knockout of the mouse apolipoprotein B gene results in embryonic lethality in homozygotes and protection against diet-induced hypercholesterolemia in heterozygotes.

1995 • 258 citations

The Molecular Basis of the Sparse Fur Mouse Mutation

1987 • 253 citations

Interactions between wild-type and mutant prion proteins modulate neurodegeneration in transgenic mice.

1996 • 253 citations

Protection Against Atherogenesis in Mice Mediated by Human Apolipoprotein A-IV

1996 • 250 citations

Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

1992 • 250 citations

Transgenic mice with targeted inactivation of the Col2 alpha 1 gene for collagen II develop a skeleton with membranous and periosteal bone but no endochondral bone.

1995 • 242 citations

Correction of Lethal Intestinal Defect in a Mouse Model of Cystic Fibrosis by Human CFTR

1994 • 241 citations

Simulation of human autosomal dominant retinitis pigmentosa in transgenic mice expressing a mutated murine opsin gene.

1993 • 240 citations

Gene targeting yields a CD18-mutant mouse for study of inflammation.

1993 • 240 citations

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

1994 • 239 citations

CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency.

1994 • 236 citations

A mouse model for the cystic fibrosis delta F508 mutation.

1995 • 234 citations

A mutant p53 transgene accelerates tumour development in heterozygous but not nullizygous p53–deficient mice

1995 • 233 citations

Mouse models of human phenylketonuria.

1993 • 233 citations

Development of thyroid papillary carcinomas secondary to tissue-specific expression of the RET/PTC1 oncogene in transgenic mice.

1996 • 232 citations

Multiple functions for Pax6 in mouse eye and nasal development.

1996 • 231 citations

Mice deficient for prion protein exhibit normal neuronal excitability and synaptic transmission in the hippocampus.

1996 • 227 citations

Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull.

1995 • 225 citations

Reversal of pathology in murine mucopolysaccharidosis type VII by somatic cell gene transfer

1992 • 221 citations

Glucose–6–phosphatase dependent substrate transport in the glycogen storage disease type–1a mouse

1996 • 220 citations

Ankyrin–1 mutations are a major cause of dominant and recessive hereditary spherocytosis

1996 • 220 citations

Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice.

1989 • 219 citations

The mutational spectrum in Waardenburg syndrome

1995 • 218 citations

Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly

1995 • 217 citations

Insight into the microphthalmia gene

1995 • 216 citations

Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase.

1993 • 213 citations

Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)

1995 • 209 citations

Anterior pituitary development: Short tales from dwarf mice

1992 • 208 citations

From white spots to stem cells: the role of the Kit receptor in mammalian development

1993 • 206 citations

A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)

1996 • 205 citations

Enzyme replacement therapy for murine mucopolysaccharidosis type VII.

1994 • 201 citations

Long–term correction of mouse dystrophic degeneration by adenovirus–mediated transfer of a minidystrophin gene

1993 • 201 citations

Pax6: more than meets the eye

1995 • 195 citations

Identification of the murine beige gene by YAC complementation and positional cloning

1996 • 193 citations

Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease.

1994 • 192 citations

A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse

1994 • 191 citations

PAX genes

1994 • 190 citations

Spinocerebellar ataxia type 1

1995 • 190 citations

Osteoarthritis associated with mild chondrodysplasia in transgenic mice expressing alpha 1(IX) collagen chains with a central deletion.

1993 • 188 citations

Identification of sex–specific quantitative trait loci controlling alcohol preference in C57BL/6 mice

1996 • 188 citations

Correction of lysosomal storage in the liver and spleen of MPS VII mice by implantation of genetically modified skin fibroblasts

1993 • 183 citations

Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse.

1994 • 182 citations

Quantitative trait loci mapping of three loci controlling morphine preference using inbred mouse strains

1994 • 181 citations

The Molecular Basis of X‐Linked Severe Combined Immunodeficiency: The Role of the Interleukin‐2 Receptor γ Chain as a Common γ Chain, γc

1994 • 180 citations

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

1995 • 179 citations

New mdx mutation disrupts expression of muscle and nonmuscle isoforms of dystrophin

1993 • 178 citations

Retinal Degeneration in Mice Lacking the γ Subunit of the Rod cGMP Phosphodiesterase

1996 • 178 citations

Endothelin receptor-mediated signaling in hirschsprung disease.

1996 • 177 citations

Cellular interactions implicated in the mechanism of photoreceptor degeneration in transgenic mice expressing a mutant rhodopsin gene.

1993 • 177 citations

A Mouse Model for b-Thalassemia

1982 • 174 citations

Light-induced acceleration of photoreceptor degeneration in transgenic mice expressing mutant rhodopsin.

1996 • 171 citations

Unaltered susceptibility to BSE in transgenic mice expressing human prion protein

1997 • 170 citations

The Denys-Drash syndrome.

1994 • 168 citations

Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy

1994 • 162 citations

The neurofibromatosis type 1 gene and its protein product, neurofibromin

1993 • 161 citations

Mouse models of human disease. Part I: techniques and resources for genetic analysis in mice.

1997 • 160 citations

INHERITED HEARING DEFECTS IN MICE

1995 • 157 citations

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

1996 • 157 citations

Kidney and Retinal Defects (Krd), a Transgene-Induced Mutation with a Deletion of Mouse Chromosome 19 That Includes the Pax2 Locus

1994 • 156 citations

Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy

1995 • 153 citations

Suppression of diet-induced atherosclerosis in low density lipoprotein receptor knockout mice overexpressing lipoprotein lipase.

1996 • 151 citations

Apoptosis, fas and systemic autoimmunity: the MRL-Ipr/Ipr model

1994 • 151 citations

A single base deletion in the Tfm androgen receptor gene creates a short-lived messenger RNA that directs internal translation initiation.

1991 • 151 citations

Apolipoprotein E and the Apolipoprotein E-Deficient Mouse

1995 • 142 citations

The Genetic Basis of Chronic Granulomatous Disease

1994 • 139 citations

Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice

1995 • 138 citations

Lung disease in the cystic fibrosis mouse exposed to bacterial pathogens

1995 • 138 citations

Motor neurons and neurofilaments in sickness and in health

1993 • 137 citations

Fibrillin mutations in Marfan syndrome and related phenotypes

1996 • 135 citations

A murine model of Menkes disease reveals a physiological function of metallothionein

1996 • 134 citations

Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.

1995 • 133 citations

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

1995 • 132 citations

Identification of a point mutation in the thyrotropin receptor of the hyt/hyt hypothyroid mouse

1994 • 132 citations

Distinct genetic loci control development of benign and malignant skin tumours in mice

1995 • 129 citations

Mutations in PAX3 that cause Waardenburg syndrome type I: Ten new mutations and review of the literature

1995 • 129 citations

Exogenous Dp71 restores the levels of dystrophin associated proteins but does not alleviate muscle damage in mdx mice

1994 • 129 citations

Genetic susceptibility to Alzheimer disease

1995 • 128 citations

Functional protection of dystrophic mouse (mdx) muscles after adenovirus-mediated transfer of a dystrophin minigene.

1996 • 126 citations

Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations.

1996 • 126 citations

Molecular genetics of oculocutaneous albinism

1994 • 126 citations

The mottled gene is the mouse homologue of the Menkes disease gene

1994 • 125 citations

A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII.

1993 • 124 citations

Mouse model of human beta zero thalassemia: targeted deletion of the mouse beta maj- and beta min-globin genes in embryonic stem cells.

1995 • 124 citations

Molecular Basis of Human Piebaldism

1994 • 122 citations

Towards a transgenic mouse model of sickle cell disease: hemoglobin SAD.

1991 • 121 citations

Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.

1996 • 120 citations

A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice.

1992 • 119 citations

Taking stock of complex trait genetics in mice

1995 • 119 citations

Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

1994 • 119 citations

A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito

1996 • 118 citations

apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes.

1995 • 118 citations

Adenosine–deaminase–deficient mice die perinatally and exhibit liver–cell degeneration, atelectasis and small intestinal cell death

1995 • 117 citations

Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism.

1995 • 114 citations

Genetic Factors in Nonspecific Bronchial Hyperreactivity

1987 • 113 citations

Segregation analysis of bronchial response to methacholine inhalation challenge in families with and without asthma

1986 • 111 citations

Mice lacking ornithine–δ–amino–transferase have paradoxical neonatal hypoornithinaemia and retinal degeneration

1995 • 109 citations

Purkinje cell degeneration associated with erythroid ankyrin deficiency in nb/nb mice.

1991 • 109 citations

Sickle cell disease of transgenic SAD mice

1994 • 109 citations

Bruton's Tyrosine Kinase is a Key Regulator in B‐Cell Development

1994 • 107 citations

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

1994 • 103 citations

Phenotype correction in retinal pigment epithelium in murine mucopolysaccharidosis VII by adenovirus-mediated gene transfer.

1995 • 100 citations

Production of a model for Lesch–Nyhan syndrome in hypoxanthine phosphoribosyltransferase–deficient mice

1993 • 99 citations

Homozygosity for Waardenburg syndrome.

1995 • 99 citations

Genes and deafness

1994 • 98 citations

Targeted expression of the ret/PTC1 oncogene induces papillary thyroid carcinomas

1996 • 97 citations

Gene targeting at the mouse cytokeratin 10 locus: severe skin fragility and changes of cytokeratin expression in the epidermis.

1996 • 94 citations

Increased expression of keratin 16 causes anomalies in cytoarchitecture and keratinization in transgenic mouse skin.

1994 • 94 citations

A second generation transgenic mouse model expressing both hemoglobin S (HbS) and HbS-Antilles results in increased phenotypic severity

1995 • 94 citations

The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene

1992 • 93 citations

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

1996 • 91 citations

A polygenic mouse model of psoriasiform skin disease in CD18-deficient mice.

1996 • 89 citations

Lethal α–thalassaemia created by gene targeting in mice and its genetic rescue

1995 • 89 citations

Regulating Cell Proliferation—As Easy as APC

1996 • 86 citations

Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1

1992 • 85 citations

Intercellular signals downstream of endothelin receptor-B mediate colonization of the large intestine by enteric neuroblasts

1995 • 84 citations

Retinal Degeneration slow (rds) in Mouse Results from Simple Insertion of a t Haplotype-Specific Element into Protein-Coding Exon II

1995 • 83 citations

Disappearance of lysosomal storage in spleen and liver of mucopolysaccharidosis VII mice after transplantation of genetically modified bone marrow cells

1993 • 82 citations

Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene.

1993 • 80 citations

Type II Collagen Mutations in Rare and Common

1994 • 80 citations

GERMLINE p53 MUTATIONS AND HERITABLE CANCER

1994 • 78 citations

HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome

1996 • 76 citations

Nerve Regeneration Occurs in the Absence of Apolipoprotein E in Mice

1993 • 76 citations

Radiation-induced mutations at mouse hemoglobin loci.

1976 • 75 citations

Malignant Hyperthermia

1992 • 75 citations

Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.

1992 • 74 citations

Ankyrin and the hemolytic anemia mutation, nb, map to mouse chromosome 8: presence of the nb allele is associated with a truncated erythrocyte ankyrin.

1990 • 74 citations

The mouse as a model for human cardiovascular disease and hyperlipidemia

1994 • 71 citations

Genetic Skin Disorders of Keratin

1992 • 69 citations

REPORTS

1994 • 69 citations

The Molecular Biology of Cystic Fibrosis

1993 • 68 citations

Ferrochelatase Structural Mutant (Fechm1Pas) in the House Mouse

1993 • 68 citations

Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus.

1992 • 66 citations

Charles S. Mott prize. Hereditary cancers disclose a class of cancer genes

1989 • 66 citations

The proteolipid protein gene

1995 • 65 citations

Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.

1995 • 64 citations

Current management of advanced breast cancer.

1996 • 64 citations

Mutations in collagen genes resulting in metaphyseal and epiphyseal dysplasias

1995 • 54 citations

Spectrin genes in health and disease.

1993 • 54 citations

Meta-analysis, clinical trials, and transferability of research results into practice. The case of cholesterol-lowering interventions in the secondary prevention of coronary heart disease.

1996 • 53 citations

A molecular genetic linkage map of mouse chromosome 13 anchored by the beige (bg) and satin (sa) loci

1990 • 46 citations

Quantitative trait loci that modify the severity of spotting in piebald mice.

1995 • 46 citations

The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization.

1996 • 45 citations

The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization.

1996 • 43 citations

Molecular Pathology of X-Linked Immunoglobulin Deficiency with Normal or Elevated IgM (HIGMX-1)

1994 • 43 citations

Cytogenetic effects of 2-methoxyethanol and its metabolite, methoxyacetaldehyde, in mammalian cells in vitro

1994 • 42 citations

Retinal genetics: a nullifying effect for rhodopsin

1992 • 41 citations

A fragile gene

1995 • 40 citations

Lessons from thep53 mutant mouse

1996 • 36 citations

Linkage of genes for adult alpha-globin and embryonic alpha-like globin chains.

1980 • 35 citations

Complementation analysis of Chediak-Higashi Syndrome: The same gene may be responsible for the defect in all patients and species

1993 • 35 citations

Meta-analysis, Clinical Trials, and Transferability of Research Results Into Practice

1996 • 34 citations

Retarded chondrogenesis in transgenic mice with a type II collagen defect results in fracture healing abnormalities

1994 • 32 citations

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis.

1995 • 32 citations

The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin.

1994 • 31 citations

The genetic basis of neuromuscular disorders

1996 • 30 citations

Pathology of the ear in murine mucopolysaccharidosis type VII. Morphologic correlates of hearing loss.

1994 • 29 citations

Phosphorylase kinase deficiency in I–strain mice is associated with a frameshift mutation in the α subunit muscle isoform

1993 • 29 citations

Molecular Basis of Human Piebaldism.

1994 • 28 citations

X-linked muscular dystrophies

1992 • 27 citations

Discovery of a brain promoter from the human transferrin gene and its utilization for development of transgenic mice that express human apolipoprotein E alleles.

1995 • 27 citations

Prions Prions Prions

1996 • 26 citations

Transgenic animal models of sickle cell disease

1993 • 24 citations

Inherited cancers associated with the RET proto-oncogene

1994 • 24 citations

Insights into Lipoprotein Metabolism from Studies in Transgenic Mice

1994 • 23 citations

Molecular basis of adenosine deaminase deficiency.

1994 • 23 citations

THe genetics of familial breast cancer.

1996 • 22 citations

Murine models of neoplasia: functional analysis of the tumour suppressor genesRb-1 andp53

1995 • 19 citations

Transgenic mice expressing human apoB100 and apoB48

1994 • 19 citations

Mouse models of hypoxanthine phosphoribosyltransferase deficiency

1992 • 19 citations

Development of mouse models for cystic fibrosis

1995 • 15 citations

7 Menkes and Wilson Diseases

1995 • 13 citations

5 The Influence of Molecular Biology on Our Understanding of Lipoprotein Metabolism and the Pathobiology of Atherosclerosis

1995 • 7 citations

Transgenic Mice and Modeling Alzheimer's Disease

1995 • 7 citations

Inherited haemolytic anaemia created by insertional inactivation of the α-spectrin gene

1992 • 6 citations