Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
about
Ellis-van Creveld syndromeThe DNA sequence and comparative analysis of human chromosome 20Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisIdentification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other lociLoss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transportClinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studyBbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.09/15: Comparative genomics of a conserved chromosomal region associated with a complex human phenotypeBardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assemblyChaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomesHirschsprung disease, associated syndromes, and genetics: a review.The complexities of ocular genetics.Genetics of population isolates.Polydactyly: how many disorders and how many genes?Polydactyly: how many disorders and how many genes? 2010 update.A case of hydrometrocolpos and polydactyly.Multiple hits during early embryonic development: digenic diseases and holoprosencephalyRecurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.Coupling genomics and human genetics to delineate basic mechanisms of development.Dealing with misfolded proteins: examining the neuroprotective role of molecular chaperones in neurodegeneration.A case of McKusick-Kaufman syndrome.McKusick-Kaufman or Bardet-Biedl syndrome? A new borderline case in an Italian nonconsanguineous healthy family.Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.Genetic disorders involving molecular-chaperone genes: a perspective.The Chemical Biology of Molecular Chaperones--Implications for Modulation of ProteostasisTargeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesGenetic studies in the Amish community.MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.Anorectal atresia and variants at predicted regulatory sites in candidate genes.A meta-analysis of quantitative trait loci associated with body weight and adiposity in mice.Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.Molecular chaperones and photoreceptor function.The McKusick-Kaufman hydrometrocolpos-polydactyly syndrome: A rare case reportGene expression profiling: canonical molecular changes and clinicopathological features in sporadic colorectal cancers.Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literatureBarcoding heat shock proteins to human diseases: looking beyond the heat shock response
P2860
Q21202970-EC462348-1D1E-41D3-89A5-3FAF30680994Q21735926-1121E551-65A7-4E9A-BDC2-7060480BF5FAQ24309344-E0E525F7-1B87-4AC5-BB3F-8F9ED5602146Q24531954-AFFB77F3-E4FD-43EB-A3C5-4ECFC7AFF417Q24532021-1A7C2401-F28A-429C-A208-75D35A3184E6Q24533582-6D2247FD-D2F5-4FFB-A6FF-94FECC0E42E9Q24536206-7457EFE9-84A0-49FD-8EBC-98B0CFC76FEFQ24564553-0CCC976E-4F79-454D-98D8-1FC7D760316BQ24622509-99BDBCC8-29DF-4EF4-8AC4-ED48F29B6589Q28292806-A750757E-3715-4235-9E4B-2261C5BE61F0Q28363526-0772546D-39D8-4264-B892-5E1C29AE0046Q28585659-11F55C46-9466-4331-90D8-1048FB212F28Q28748272-1AE42E02-E757-4B47-BEC1-A700A5CEA542Q34428513-32A54F32-1912-4F61-A9DA-742105C855DCQ34592303-960C46CC-E0D2-4148-8D85-BBE936C729D0Q34657331-910FEE2A-5D2F-4C52-ACAC-FDE0AF332F9FQ34926858-5C9CC382-6326-45A4-AF19-D7398A3C1315Q34929970-B22BE69F-3606-4AC9-B2EE-E583C539EED6Q34973740-FCC59055-B0D0-444A-A020-1143F35ADF73Q34978312-33E55DB0-0B0C-4EE3-888A-1B12AA25CCD7Q35045712-13170879-3F3C-4A57-A13C-AE60421567E8Q35051965-44E38252-0685-4E17-8B20-96A3102812F8Q35096762-DCAF606C-E678-498D-8A48-BB2F7091575FQ35134699-3D410D7F-6738-4B56-9320-C3589A844684Q35544722-CC5001FE-082B-409F-B9B3-AA714ACC9444Q35779577-9AD77695-31C4-4B8E-81EE-165510644F1AQ36011587-8C32A9C8-345C-4154-A9CC-169311340467Q36059002-20BC8C67-9720-44EB-B48C-6527B1934051Q36216971-7C7C973B-41E3-4A04-867B-F1E625126196Q36227012-2784352F-A183-4626-8077-3855843ABAF0Q36489119-5083CD52-8A85-4B57-A054-C9009111D3F9Q36503869-E0857CA1-E736-49CF-81B2-22D35C277BD4Q36633052-BA9BBE5D-77F2-421F-BA1E-24D12350113DQ36823120-802F671B-AC1E-4CD6-96CA-0693DF3EEB8FQ37167901-B963E955-7D76-4127-948F-4BA4D1992EE7Q37183227-078FABFD-350A-4582-BA17-5E500A6A562CQ37411866-35AF6CD5-1C61-4647-9AA7-B262D05F525DQ37530115-AB054DE8-7D12-434F-8F55-BA7E02CDEF86Q37613190-C52BB131-DBC7-4CE0-AE3C-D65C91DAB5F6Q38203487-1618D3D0-553B-42CD-BFE2-BEC913BB9DE4
P2860
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
description
2000 nî lūn-bûn
@nan
2000 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@ast
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@en
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@en-gb
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@nl
type
label
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@ast
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@en
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@en-gb
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@nl
prefLabel
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@ast
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@en
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@en-gb
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@nl
P2093
P2860
P356
P1433
P1476
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
@en
P2093
A D Baxevanis
A Slavotinek
G G Bouffard
L G Biesecker
S Banerjee-Basu
P2860
P2888
P356
10.1038/75637
P407
P577
2000-05-01T00:00:00Z
P6179
1016644373