Steroid Sulfatase Deficiency and the Genetics of the Short Arm of the Human X Chromosome

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

The Metabolic Basis of Inherited Disease.

1983 • 2,885 citations

DNA Methylation and Gene Function

1980 • 2,069 citations

Sex Chromosomes and Sex-linked Genes.

1968 • 1,363 citations

Blood groups in man

1962 • 1,174 citations

Sex Chromosomes and Sex-Linked Genes

1967 • 1,050 citations

Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse

1975 • 783 citations

Reactivation of an Inactive Human X Chromosome: Evidence for X Inactivation by DNA Methylation

1981 • 711 citations

MAMMALIAN X-CHROMOSOME INACTIVATION

1983 • 635 citations

Testosterone Formation and Metabolism During Male Sexual Differentiation in the Human Embryo

1974 • 592 citations

The Role of X-Chromosome Inactivation during Spermatogenesis

1972 • 508 citations

Placental Estrogen Biosynthesis During Human Pregnancy1

1966 • 478 citations

Genetic homology and crossing over in the X and Y chromosomes of mammals

1982 • 388 citations

Preferential expression of the maternally derived X chromosome in the mouse yolk sac

1977 • 328 citations

Isozymes current topics in biological and medical research

1984 • 328 citations

X-LINKED ICHTHYOSIS DUE TO STEROID-SULPHATASE DEFICIENCY

1978 • 325 citations

Inherited Abnormalities of the Skin and Its Appendages.

1933 • 318 citations

The Behavior of the XY Pair in Mammals

1974 • 291 citations

Epidermal Lipids, Membranes, and Keratinization.

1981 • 275 citations

Sex reversal in the mouse (Mus musculus) is caused by a recurrent nonreciprocal crossover involving the X and an aberrant Y chromosome

1982 • 249 citations

The utilization of circulating dehydroisoandrosterone sulfate for estrogen synthesis during human pregnancy

1963 • 246 citations

Inherited Abnormalities of the Skin and Its Appendages

1933 • 226 citations

Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes.

1984 • 226 citations

Non-inactivation of an X-Chromosome Locus in Man

1979 • 216 citations

Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English Population

1966 • 213 citations

Pattern of Plasma Dehydroepiandrosterone Sulfate Levels in Humans from Birth to Adulthood: Evidence for Testicular Production*

1978 • 211 citations

A human thymus-leukemia antigen defined by hybridoma monoclonal antibodies.

1979 • 199 citations

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.

1981 • 197 citations

Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

1984 • 188 citations

Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome

1983 • 183 citations

Human XX males with Y single-copy DNA fragments

1984 • 183 citations

Meitoic crossing-over between the X and Y chromosomes of male mice carrying the sex-reversing (Sxr) factor

1982 • 178 citations

Placental Sulfatase Deficiency¹

1969 • 175 citations

A SEX-LINKED BLOOD GROUP

1962 • 174 citations

Secretion of the adrenal androgen, dehydroepiandrosterone sulfate, during normal infancy, childhood, and adolescence, in sick infants, and in children with endocrinologic abnormalities

1977 • 168 citations

Sex chromosome associated satellite DNA: Evolution and conservation

1980 • 167 citations

ENZYMATIC BASIS OF TYPICAL X-LINKED ICHTHYOSIS

1978 • 166 citations

Intestinal Metabolism of Estrogens1

1976 • 166 citations

The genetical and mechanical properties of the sex-chromosomes

1934 • 162 citations

Studies of X chromosome DNA methylation in normal human cells

1982 • 157 citations

Genetic Classification of Ichthyosis

1965 • 153 citations

Regional assignment of the steroid sulfatase—X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome

1979 • 150 citations

Cell cycle-specific reactivation of an inactive X-chromosome locus by 5-azadeoxycytidine.

1982 • 149 citations

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1980 • 148 citations

STUDIES ON THE SECRETION AND INTERCONVERSION OF THE ANDROGENS.

1963 • 143 citations

Chemical and Biological Aspects of Steroid Conjugation

1970 • 138 citations

3-Hydroxy-3-methylglutaryl-CoA reductase: a transmembrane glycoprotein of the endoplasmic reticulum with N-linked "high-mannose" oligosaccharides.

1983 • 136 citations

Differential expression of steroid sulphatase locus on active and inactive human X chromosome

1982 • 135 citations

Localization of cholesteryl sulfate in human spermatozoa in support of a hypothesis for the mechanism of capacitation.

1981 • 135 citations

X-Linked Ichthyosis: Increased Blood Cholesterol Sulfate and Electrophoretic Mobility of Low-Density Lipoprotein

1981 • 125 citations

Differences in the DNA of the inactive X chromosomes of fetal and extraembryonic tissues of mice

1983 • 123 citations

In VivoConversion of Dehydroisoandrosterone to Plasma Androstenedione and Testosterone in Man¹

1967 • 118 citations

Conserved Sex-chromosome-associated Nucleotide Sequences in Eukaryotes

1981 • 117 citations

Dehydroepiandrosterone Sulfate (DS) Levels, a Rapid Test for Abnormal Adrenal Androgen Secretion

1976 • 116 citations

Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis.

1981 • 116 citations

X-Autosome Translocations in The Mouse: Total Inactivation Versus Partial Inactivation Of The X Chromosome

1970 • 115 citations

Evidence that Steroid Sulfates Serve as Biosynthetic Intermediates.^* IV. Conversion of Cholesterol Sulfate in vivo to Urinary C₁₉ and C₂₁ Steroidal Sulfates^†

1964 • 114 citations

The cell surface antigen locus, MIC2X, escapes X-inactivation.

1984 • 112 citations

A human X-linked antigen defined by a monoclonal antibody

1980 • 111 citations

Derepression of genes on the human inactive X chromosome: Evidence for differences in locus-specific rates of derepression and rates of transfer of active and inactive genes after DNA-mediated transformation

1982 • 110 citations

A Study of a Pregnancy with Low Estrogen Production Due to Placental Sulfatase Deficiency

1973 • 108 citations

Inactive X chromosome DNA does not function in DNA-mediated cell transformation for the hypoxanthine phosphoribosyltransferase gene.

1980 • 106 citations

Preliminary observations on the occurrence of cholesterol sulfate in man

1966 • 105 citations

X-linked icthyosis. A sulphatase deficiency.

1978 • 104 citations

X-linked steroid sulfatase: Evidence for different gene-dosage in males and females

1980 • 103 citations

Pairing of X and Y chromosomes, non-inactivation of X-linked genes, and the maleness factor

1982 • 102 citations

Genetic evidence of X–Y interchange in a human XX male

1984 • 100 citations

Steroid Sulfatase, X-Linked Ichthyosis, and Stratum Corneum Cell Cohesion

1981 • 100 citations

Fertile females produced by inactivation of an X chromosome of ‘sex-reversed’ mice

1982 • 97 citations

Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man.

1980 • 95 citations

Evidence that Steroid Sulfates Serve as Biosynthetic Intermediates: In vivo Conversion of Pregnenolone-Sulfate-S³⁵ to Dehydroisoandrosterone Sulfate-S^35*

1963 • 95 citations

Eye Changes in Ichthyosis

1968 • 94 citations

Conserved repeated DNA sequences in vertebrate sex chromosomes

1981 • 93 citations

Steroid Sulfatase Deficiency

1977 • 92 citations

Solubilization and partial purification of steroid sulfatase from rat liver: Characterization of estrone sulfatase

1976 • 92 citations

Cholesterol sulfate. I. Occurrence and possible biological functions as an amphipathic lipid in the membrane of the human erythrocyte

1974 • 90 citations

Evidence for existence of cortical androgen-stimulating hormone.

1979 • 89 citations

Genetic Basis of XX Male Syndrome and XX True Hermaphroditism: Evidence in the Dog

1978 • 82 citations

Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism

1983 • 82 citations

DOSAGE COMPENSATION IN DROSOPHILA

1973 • 81 citations

X-chromosome inactivation in extra-embryonic membranes of diploid parthenogenetic mouse embryos demonstrated by differential staining

1980 • 80 citations

Elevation of Serum Triglyceride Levels From Oral Isotretinoin in Disorders of Keratinization

1980 • 80 citations

STEROID METABOLISM IN THE HUMAN FOETO-PLACENTAL UNIT

1969 • 80 citations

The Histology of Ichthyosis**From the Population Genetics Research Unit, Old Road, Headington, Oxford, England.

1966 • 80 citations

Cutaneous Syndromes Produced as Side Effects of Triparanol Therapy

1963 • 78 citations

Male, female and intersex development in mice of identical chromosome constitution

1982 • 78 citations

Evolution of X-chromosome inactivation in mammals

1974 • 78 citations

Cholesteryl sulfate and sterol sulfatase in the human reproductive tract

1976 • 74 citations

Steroid-sulfatase deficiency in sex-linked ichthyosis.

1979 • 72 citations

INCREASED CHOLESTEROL SULFATE IN PLASMA AND RED BLOOD CELL MEMBRANES OF STEROID SULFATASE DEFICIENT PATIENTS

1981 • 69 citations

Xg groups and sex chromosome abnormalities in people of northern European ancestry: an addendum.

1977 • 67 citations

ISOLATION OF DEHYDROISOANDROSTERONE SULFATE FROM NORMAL MALE URINE

1944 • 66 citations

Translocation(X;Y)(p22.33;p11.2) in XX males: Etiology of male phenotype

1982 • 65 citations

Properties of steroid sulphatase and arylsulphatase activities of human placenta

1967 • 59 citations

Studies of the biochemical basis of steroid sulphatase deficiency: Preliminary evidence suggesting a defect in membrane-enzyme structure

1980 • 58 citations

THE ISOLATION OF ESTRONE SULFATE FROM THE URINE OF PREGNANT MARES

1938 • 57 citations

Isolation of cholesterol sulfate from human blood and gallstones

1965 • 57 citations

Regional assignment of the gene locus for steroid sulfatase

1980 • 57 citations

Lipid storage diseases. Enzymatic defects and clinical implications

1972 • 56 citations

Multiple Deficiency of Mucopolysaccharide Sulfatases in Mucosulfatidosis

1979 • 55 citations

Metabolism and Interconversion of Dehydroisoandrosterone and Dehydroisoandrosterone Sulfate

1972 • 55 citations

Evidence for DNA modification in the maintenance of X-chromosome inactivation of adult mouse tissues.

1982 • 54 citations

Gas Chromatographic Steroid Analysis for Diagnosis of Placental Sulfatase Deficiency: A Study of Nine Patients

1979 • 53 citations

X-linked ichthyosis and ichthyosis vulgaris. Clinical and genetic distinctions in a second series of families

1967 • 51 citations

Placental Sulfatase Deficiency: A Case Study

1976 • 49 citations

X-chromosome inactivation and the Xg locus.

1970 • 49 citations

Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome.

1982 • 48 citations

STEROID SULPHATASE DEFICIENCY ASSOCIATED WITH TESTIS CANCER

1983 • 47 citations

Review: Placental sulphatase deficiency

1982 • 47 citations

Prenatal diagnosis of placental steroid sulfatase deficiency

1976 • 47 citations

FAMILIAL SIDEROBLASTIC ANÆMIA: PROBLEM OF Xg AND X CHROMOSOME INACTIVATION

1970 • 46 citations

Cutaneous effects of a new butyrophenone drug

1964 • 45 citations

Diagnosis of placental sulfatase deficiency

1976 • 45 citations

X-LINKED ICHTHYOSIS AND THE Xg GROUPS

1964 • 45 citations

The application of -Xga antiserum to the question of red cell mosaicism in female heterozygotes.

1963 • 45 citations

Red cell surface structure: Stabilization by cholesterol sulfate as evidenced by scanning electron microscopy

1975 • 44 citations

Activity of steroid sulfatase in fibroblasts with numerical and structural X chromosome aberrations

1981 • 44 citations

Evidence that the Xg Locus is Inactivated in Structurally Abnormal X Chromosomes

1970 • 43 citations

Solubilization and partial purification of steroid sulfatase of human placenta

1978 • 43 citations

BIOCHEMICAL AND CLINICAL OBSERVATIONS IN A PREGNANCY WITH PLACENTAL SULPHATASE AND OTHER ENZYME DEFICIENCIES

1974 • 42 citations

Studies on the Secretion and Interconversion of the Androgens. IV. Quantitative Results in a Normal Man Whose Gonadal and Adrenal Function Were Altered Experimentally1

1965 • 42 citations

Sulfatase Activity of Keratinizing Tissues in X-Linked Ichthyosis

1980 • 42 citations

Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts.

1978 • 41 citations

Desmosteryl sulfate and desmosterol in hamster epididymal spermatozoa

1974 • 41 citations

Letters to the Editor: Isolation of Cholesterol Sulfate from Human Aortas and Adrenal Tumors

1967 • 41 citations

Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B

1979 • 41 citations

Nullisomy for the distal portion of Xp in a male child with a X/Y translocation

1977 • 40 citations

Xg Locus : Failure to detect Inactivation in Females with Chronic Myelocytic Leukaemia

1970 • 40 citations

Human placental steroid sulfatase: Purification and properties

1983 • 39 citations

The role of Yp in sex determination: New evidence from X/Y translocations

1982 • 38 citations

X-Y translocation in a retarded phenotypic male. Clinical, cytogenetic, biochemical, and serogenetic studies.

1978 • 38 citations

TOPICAL CHOLESTEROL TREATMENT OF RECESSIVE X-LINKED ICHTHYOSIS

1983 • 38 citations

Y to X translocation in man

1977 • 37 citations

Xg BLOOD-GROUPS AND CLONAL-ORIGIN THEORY OF CHRONIC MYELOID LEUKÆMIA

1970 • 35 citations

Sex‐linked ichthyosis

1965 • 35 citations

Review: The mammalian sulphatases and placental sulphatase deficiency in man

1982 • 35 citations

Studies on steroidogenesis and its regulation in human fetal adrenal and testis

1977 • 35 citations

X-Linked Ichthyosis and Ichthyosis Vulgaris

1967 • 34 citations

X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.

1980 • 34 citations

Cholesterol sulfate. II. Studies on its metabolism and possible function in canine blood

1975 • 34 citations

EVIDENCE FOR X-LINKAGE OF STEROID SULFATASE IN THE MOUSE: STEROID SULFATASE LEVELS IN OOCYTES OF XX AND XO MICE

1983 • 33 citations

Studies on the Secretion and Interconversion of the Androgens. III. Results Obtained After the Injection of Several Radioactive C₁₉Steroids, Singly or as Mixtures1

1965 • 33 citations

Y to X translocation in a woman with reproductive failure. A new rearrangement.

1973 • 33 citations

Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblasts

1981 • 33 citations

Steroid sulphates in human adult testicular steroid synthesis

1975 • 32 citations

Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase

1979 • 32 citations

Sterol Sulfate Metabolism in the Adrenals of the Human Fetus, Anencephalic Newborn, and Adult*

1982 • 32 citations

Metabolism of deoxycorticosterone and deoxycorticosterone sulfate in men and women.

1982 • 31 citations

Myotonia and Keratoderma Induced by 20,25 Diazacholestenol

1965 • 31 citations

A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation

1983 • 30 citations

The hydrolysis of estrone sulfate by rat kidney microsomal sulfatase

1969 • 30 citations

Steroid sulphatase deficiency

1979 • 29 citations

The Distribution of Estrone Sulphatase, Dehydroepiandrosterone Sulphatase, and Arylsulphatase C in the Primate (Macaca radiata) Brain and Pituitary

1981 • 29 citations

BIOSYNTHESIS OF ESTROGENS IN PREGNANCY: PRECURSOR ROLE OF PLASMA DEHYDROISOANDROSTERONE.

1964 • 29 citations

Review: Genetics of steroid sulphatase deficiency and X‐linked ichthyosis

1982 • 28 citations

Skin Changes after Therapeutic Administration of Nicotinic Acid in Large Doses

1960 • 28 citations

Y-TO-X TRANSLOCATION IN A GIRL

1974 • 25 citations

The binding of sterol sulfates to hamster spermatozoa

1979 • 25 citations

Xg AND X CHROMOSOME INACTIVATION

1971 • 25 citations

Enzymological Aspects of Steroid Conjugation

1970 • 25 citations

Is multiple sulphatase deficiency due to defective regulation of sulphohydrolase expression?

1979 • 25 citations

Y-to-X chromosome translocation observed in two generations

1980 • 24 citations

A new case of Y to X translocation in a female

1980 • 24 citations

Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts.

1979 • 24 citations

DNA Methylation and the Control of Gene Expression on the Human X Chromosome

1983 • 23 citations

Y to X Translocation in a Woman With Reproductive Failure

1973 • 23 citations

Variation in regulation of steroid sulphatase locus in mammals

1983 • 22 citations

X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism.

1980 • 22 citations

Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers

1982 • 22 citations

Linkage relations of X‐borne ichthyosis to the Xg blood groups and to other markers of the X in Israelis

1969 • 22 citations

Serum steroid sulphates in ichthyosis

1980 • 22 citations

X‐linked ichthyosis: linkage relationship with the Xg blood groups and other studies in a large Dutch kindred

1969 • 21 citations

Determination of arylsulfatase C in hair follicles

1979 • 21 citations

Evidence for a dosage effect at the X-linked steroid sulfatase locus in human tissues.

1983 • 21 citations

Steroid sulfatase activity in cultured fibroblasts of XX males

1981 • 21 citations

Absorption of oestrone sulphate from the gastrointestinal tract of the rat

1981 • 20 citations

The target sizes of the in situ and solubilized forms of human placental steroid sulfatase as measured by radiation inactivation☆

1983 • 20 citations

On the role of steroid sulfates in hormone biosynthesis

1975 • 20 citations

Lipid storage diseases. Enzymatic defects and clinical implications.

1971 • 19 citations

Testicular Steroid Sulfotransferases: Comparison to Liver and Adrenal Steroid Sulfotransferases of the Mature Rat*

1980 • 19 citations

Two further males with female karyotypes

1971 • 19 citations

Steroid sulphatase activity in the skin biopsies of various types of ichthyosis

1981 • 19 citations

A Newly Recognized Cause of Low Urinary Estriol in Pregnancy: Multiple Sulfatase Deficiency of the Fetus

1981 • 19 citations

Arylsulphatase C and Estrone Sulphatase of Sheep Hypothalamus, Preoptic Area, and Midbrain: Separation by Hydrophobic Interaction Chromatography and Evidence for Differences in Their Lipid Environment

1982 • 18 citations

Regulation of steroidogenesis in testis

1974 • 18 citations

Regulatory interactions for the control of steroid sulfate metabolism

1975 • 17 citations

Evidence for X-linkage and non-inactivation of steroid sulphatase locus in wood lemming

1982 • 17 citations

ICHTHYOSIS, Xg BLOOD-GROUPS, AND PROTAN

1966 • 17 citations

Sex-linked ichthyosis and placental sulphatase C deficiency

1980 • 17 citations

Linkage studies on X-linked ichthyosis in Sardinia.

1968 • 17 citations

Studies on Mammalian and Molluscan Steroid Sulfatase. Solubilization and Properties

1971 • 17 citations

An XX male with a single STS gene dose

1983 • 16 citations

Murine arylsulfatase C: Evidence for two isozymes

1983 • 15 citations

GENETIC ANALYSIS OF MURINE ARYLSULFATASE C AND STEROID SULFATASE

1983 • 14 citations

The Biochemistry of the 3β—Hydroxy—∆ 5—Steroid Sulfates

1970 • 14 citations

IDENTIFICATION OF AN AUTOSOMAL LOCUS AFFECTING STEROID SULFATASE ACTIVITY AMONG INBRED STRAINS OF MICE

1983 • 14 citations

Urinary Oestrogen and Plasma Human Placental Lactogen as Initial Screening Tests for a Placental Sulphatase Deficiency

1976 • 11 citations

Reinvestigation of two X/autosome translocations: segregation in cell hybrids

1978 • 11 citations

The steroid sulfatase locus on structurally abnormal inactive X chromosomes is expressed.

1984 • 8 citations

Enzymological Aspects of Steroid Conjugation

1970 • 8 citations

The Ichthyoses

1978 • 8 citations

Xg BLOOD-GROUPS AND ICHTHYOSIS

1966 • 8 citations

Genetics: The origins of men with two X chromosomes

1984 • 7 citations

Hair root analysis in X‐linked ichthyosis

1982 • 7 citations

Steroid sulphatase levels in XX males, including observations on two affected cousins

1981 • 6 citations

Interstrain variation of murine arylsulfatase C

1979 • 6 citations

On the Influence of Sex in Hereditary Disease.

1863 • 4 citations

Molecular genetics of x linked ichthyosis

1980 • 3 citations