Literature DB >> 11377969

The molecular genetics of Bardet-Biedl syndrome.

V C Sheffield1, D Nishimura, E M Stone.   

Abstract

Bardet-Biedl syndrome (BBS) has been shown to be a genetically heterogeneous disorder involving genes mapping to at least six known loci. One BBS gene (MKKS) has been identified and the form of the disorder caused by this gene is allelic to McKusick-Kaufman syndrome. MKKS codes for a putative chaperonin, suggesting that other BBS genes may also code for components of chaperone complexes or be substrates of chaperone function.

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Year:  2001        PMID: 11377969     DOI: 10.1016/s0959-437x(00)00196-9

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  5 in total

Review 1.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors:  Jeffrey E Ming; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

Review 2.  Clinical spectrum of female genital malformations in prenatal diagnosis.

Authors:  Michael R Mallmann; Ulrich Gembruch
Journal:  Arch Gynecol Obstet       Date:  2022-02-27       Impact factor: 2.344

3.  Development and biological characterization of a clinical gene transfer vector for the treatment of MAK-associated retinitis pigmentosa.

Authors:  Budd A Tucker; Erin R Burnight; Cathryn M Cranston; Mallory J Ulferts; Meagan A Luse; Trudi Westfall; C Anthony Scott; Autumn Marsden; Katherine Gibson-Corley; Luke A Wiley; Ian C Han; Diane C Slusarski; Robert F Mullins; Edwin M Stone
Journal:  Gene Ther       Date:  2021-09-14       Impact factor: 4.184

Review 4.  Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes.

Authors:  C A Johnson; P Gissen; C Sergi
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

Review 5.  Genetic kidney diseases.

Authors:  Friedhelm Hildebrandt
Journal:  Lancet       Date:  2010-04-10       Impact factor: 79.321

  5 in total

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