Functional modules, mutational load and human genetic disease
about
Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseasesMKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesisCiliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesisDishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarityComplex interactions between genes controlling trafficking in primary ciliaCentrosomal protein CP110 controls maturation of the mother centriole during cilia biogenesisAn organelle-specific protein landscape identifies novel diseases and molecular mechanismsPrediction of functionally significant single nucleotide polymorphisms [SNPs] in PTEN tumor suppressor gene: An in silico approach.Understanding disease pleiotropy: From puzzle to solution.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Identifying human disease genes through cross-species gene mapping of evolutionary conserved processes.Mutations in multiple PKD genes may explain early and severe polycystic kidney disease.Molecular genetic testing and the future of clinical genomics.TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.The emerging face of primary cilia.Protein localization as a principal feature of the etiology and comorbidity of genetic diseasesMutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent PolydactylyIdentification of G Protein-Coupled Receptors (GPCRs) in Primary Cilia and Their Possible Involvement in Body Weight Control.Translational genetics for diagnosis of human disorders of sex developmentThe transition zone protein Rpgrip1l regulates proteasomal activity at the primary ciliumThe NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variablesComplex trait analysis of ventricular septal defects caused by Nkx2-5 mutation.Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.Cilia, Wnt signaling, and the cytoskeletonFour new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.Genetic background of nonmutant Piebald-Virol-Glaxo rats does not influence nephronophthisis phenotypes.Primary cilia in energy balance signaling and metabolic disorder.Utilizing the chicken as an animal model for human craniofacial ciliopathies.DataGenno: building a new tool to bridge molecular and clinical geneticsJoubert syndrome: congenital cerebellar ataxia with the molar toothSomatic mutations are not observed by exome sequencing of lymphocyte DNA from monozygotic twins discordant for congenital hypothyroidism due to thyroid dysgenesis.Tackling Primary Cilia Dysfunction in Photoreceptor Degenerative Diseases of the Eye.Genetics of neurodegenerative diseases: insights from high-throughput resequencing.A preliminary study of the relationship between breast cancer metastasis and loss of heterozygosity by using exome sequencing.1001 model organisms to study cilia and flagella.Ciliary disorder of the skeleton.Network medicine: linking disorders.TCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease.Primary cilia in neurodevelopmental disorders.Bardet-Biedl syndrome: Is it only cilia dysfunction?
P2860
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P2860
Functional modules, mutational load and human genetic disease
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 11 March 2010
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Functional modules, mutational load and human genetic disease
@en
Functional modules, mutational load and human genetic disease.
@nl
type
label
Functional modules, mutational load and human genetic disease
@en
Functional modules, mutational load and human genetic disease.
@nl
prefLabel
Functional modules, mutational load and human genetic disease
@en
Functional modules, mutational load and human genetic disease.
@nl
P2860
P1433
P1476
Functional modules, mutational load and human genetic disease
@en
P2093
Norann A Zaghloul
P2860
P304
P356
10.1016/J.TIG.2010.01.006
P577
2010-03-11T00:00:00Z