Syndromes associated with Homo sapiens Pol II regulatory genes

被引：8

作者：

Bina, M ^{[1
]}

Demmon, S ^{[1
]}

Pares-Matos, EI ^{[1
]}

机构：

[1] Purdue Univ, Dept Chem, W Lafayette, IN 47907 USA

来源：

PROGRESS IN NUCLEIC ACID RESEARCH AND MOLECULAR BIOLOGY, VOL 64 | 2000年 / 64卷

关键词：

D O I：

10.1016/S0079-6603(00)64005-9

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：171 / 219

页数：51

共 241 条

[1] THE HUMAN HOX GENE FAMILY [J].

ACAMPORA, D ;

DESPOSITO, M ;

FAIELLA, A ;

PANNESE, M ;

MIGLIACCIO, E ;

MORELLI, F ;

STORNAIUOLO, A ;

NIGRO, V ;

SIMEONE, A ;

BONCINELLI, E .

NUCLEIC ACIDS RESEARCH, 1989, 17 (24) :10385-10402

[2] FUNCTIONAL-PROPERTIES OF A NOVEL MUTANT THYROID-HORMONE RECEPTOR IN A FAMILY WITH GENERALIZED THYROID-HORMONE RESISTANCE SYNDROME [J].

ADAMS, M ;

NAGAYA, T ;

TONE, Y ;

JAMESON, JL ;

CHATTERJEE, VKK .

CLINICAL ENDOCRINOLOGY, 1992, 36 (03) :281-289

[3] GENETIC-ANALYSIS OF 29 KINDREDS WITH GENERALIZED AND PITUITARY RESISTANCE TO THYROID-HORMONE - IDENTIFICATION OF 13 NOVEL MUTATIONS IN THE THYROID-HORMONE RECEPTOR-BETA GENE [J].

ADAMS, M ;

MATTHEWS, C ;

COLLINGWOOD, TN ;

TONE, Y ;

BECKPECCOZ, P ;

CHATTERJEE, KK .

JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (02) :506-515

[4] A SINGLE-BASE SUBSTITUTION IN EXON-6 OF THE ANDROGEN RECEPTOR GENE CAUSING COMPLETE ANDROGEN INSENSITIVITY - THE MUTATED RECEPTOR FAILS TO TRANSACTIVATE BUT BINDS TO DNA IN-VITRO [J].

ADEYEMO, O ;

KALLIO, PJ ;

PALVIMO, JJ ;

KONTULA, K ;

JANNE, OA .

HUMAN MOLECULAR GENETICS, 1993, 2 (11) :1809-1812

[5] Genomic structure of HOXD13 gene: A nine polyalanine duplication causes synpolydactyly in two unrelated families [J].

Akarsu, AN ;

Stoilov, I ;

Yilmaz, E ;

Sayli, BS ;

Sarfarazi, M .

HUMAN MOLECULAR GENETICS, 1996, 5 (07) :945-952

[6] Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene [J].

Alward, WLM ;

Semina, EV ;

Kalenak, JW ;

Héon, E ;

Sheth, BP ;

Stone, EM ;

Murray, JC .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1998, 125 (01) :98-100

[7] SYNDROMES OF GLUCOCORTICOID AND MINERALOCORTICOID RESISTANCE [J].

ARAI, K ;

CHROUSOS, GP .

STEROIDS, 1995, 60 (01) :173-179

[8]

Asher JH, 1996, HUM MUTAT, V7, P30, DOI 10.1002/(SICI)1098-1004(1996)7:1<30::AID-HUMU4>3.3.CO

[9]

2-H

[10] IDENTIFICATION OF THE ACTIVATION-LABILE GENE - A SINGLE-POINT MUTATION IN THE HUMAN GLUCOCORTICOID RECEPTOR PRESENTS AS 2 DISTINCT RECEPTOR PHENOTYPES [J].

ASHRAF, J ;

THOMPSON, EB .

MOLECULAR ENDOCRINOLOGY, 1993, 7 (05) :631-642

← 1 2 3 4 5 6 7 8 9 10 →