ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene-specific oligonucleotide primer.

1988 • 4,669 citations

Unidirectional digestion with exonuclease III creates targeted breakpoints for DNA sequencing

1984 • 4,231 citations

Human chronic myelogenous leukemia cell-line with positive Philadelphia chromosome

1975 • 2,865 citations

How eukaryotic transcriptional activators work

1988 • 1,924 citations

Analysis of Sp1 in vivo reveals mutiple transcriptional domains, including a novel glutamine-rich activation motif

1988 • 1,403 citations

Helicases: amino acid sequence comparisons and structure-function relationships

1993 • 1,141 citations

Tissue culture studies of the proliferative capacity of cervical carcinoma and normal epithelium

1952 • 1,001 citations

The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains

1995 • 893 citations

Evolution of the SNF2 family of proteins: subfamilies with distinct sequences and functions

1995 • 702 citations

HEL Cells: A New Human Erythroleukemia Cell Line with Spontaneous and Induced Globin Expression

1982 • 655 citations

The transcriptional control of hematopoiesis [see comments]

1996 • 608 citations

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with α-thalassemia (ATR-X syndrome)

1995 • 604 citations

Purification and properties of an ATP-dependent nucleosome remodeling factor

1995 • 600 citations

Characterization of the yeast SWI1, SWI2, and SWI3 genes, which encode a global activator of transcription

1992 • 596 citations

Molecular cloning and functional analysis of Drosophila TAF110 reveal properties expected of coactivators

1993 • 589 citations

Evidence that SNF2/SWI2 and SNF5 activate transcription in yeast by altering chromatin structure.

1992 • 535 citations

A review of the molecular genetics of the human alpha-globin gene cluster

1989 • 443 citations

RNA Polymerase II Holoenzyme Contains SWI/SNF Regulators Involved in Chromatin Remodeling

1996 • 364 citations

Production of single-stranded DNA templates by exonuclease digestion following the polymerase chain reaction

1989 • 342 citations

Yeast artificial chromosome libraries containing large inserts from mouse and human DNA.

1991 • 331 citations

DNA helicases: Enzymes with essential roles in all aspects of DNA metabolism

1994 • 294 citations

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1994 • 293 citations

The SNF/SWI family of global transcriptional activators

1994 • 269 citations

Isoform Diversity of Dystrobrevin, the Murine 87-kDa Postsynaptic Protein

1996 • 158 citations

Human and mouse homologs of the Saccharomyces cerevisiaeRAD54 DNA repair gene: evidence for functional conservation

1996 • 152 citations

An expanding family of helicases within the “DEAD/H” superfamily

1993 • 128 citations

Clinical and hematologic aspects of the X‐linked α‐thalassemia/mental retardation syndrome (ATR‐X)

1995 • 125 citations

Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex.

1990 • 117 citations

Contrasting effects of alpha and beta globin regulatory elements on chromatin structure may be related to their different chromosomal environments.

1995 • 95 citations

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

1996 • 67 citations

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

1994 • 67 citations

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

1996 • 65 citations

Male pseudohermaphroditism in sibs with the α‐thalassemia/mental retardation (ATR‐X) syndrome

1995 • 58 citations

X chromosome inactivation of the human TIMP gene

1990 • 51 citations

X‐linked α‐thalassemia/mental retardation (ATR‐X) syndrome: A new kindred with severe genital anomalies and mild hematologic expression

1995 • 46 citations

X-linked mental retardation, growth retardation, deafness and micro-genitalism. A second familial report

1983 • 26 citations

X linked mental retardation with non-deletional alpha thalassaemia (ATR-X): further delineation of the phenotype.

1994 • 9 citations

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome. Report of three male patients in a large French family.

1993 • 7 citations