Pages that link to "Q28589433"

The following pages link to Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome (Q28589433):

Displaying 50 items.

• Alström syndrome (Q432814) (← links)
• A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence (Q21092494) (← links)
• Linking human diseases to animal models using ontology-based phenotype annotation (Q21145806) (← links)
• The dynamic cilium in human diseases (Q21202039) (← links)
• Alstrom syndrome (OMIM 203800): a case report and literature review (Q21202955) (← links)
• ALMS1, centrosome and basal body associated (Q21422688) (← links)
• Cep164, a novel centriole appendage protein required for primary cilium formation (Q24298367) (← links)
• Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731 (Q24299855) (← links)
• Proteomic characterization of the human centrosome by protein correlation profiling (Q24301045) (← links)
• The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway (Q24338220) (← links)
• Alström syndrome: current perspectives (Q26801117) (← links)
• The role of primary cilia in the development and disease of the retina (Q26822720) (← links)
• Primary cilia in the developing and mature brain (Q27002324) (← links)
• GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance (Q27339452) (← links)
• Genetic & epigenetic approach to human obesity (Q28084624) (← links)
• Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity (Q28567235) (← links)
• NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development (Q28586324) (← links)
• Alms1-disrupted mice recapitulate human Alström syndrome (Q28588862) (← links)
• Finding new genes for non-syndromic hearing loss through an in silico prioritization study (Q28749118) (← links)
• Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells (Q30313499) (← links)
• The divergence, actions, roles, and relatives of sodium-coupled bicarbonate transporters (Q30440948) (← links)
• Cardiac magnetic resonance imaging in Alström syndrome (Q30488583) (← links)
• Cep70 and Cep131 contribute to ciliogenesis in zebrafish embryos (Q33413993) (← links)
• Nephronophthisis: disease mechanisms of a ciliopathy (Q33594278) (← links)
• Proteomic profiling of human intraschisis cavity fluid (Q33601041) (← links)
• The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey (Q33768990) (← links)
• ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis (Q33889416) (← links)
• Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts (Q33906983) (← links)
• Systematic identification of personal tumor-specific neoantigens in chronic lymphocytic leukemia (Q33917224) (← links)
• Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1 (Q34032963) (← links)
• Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease (Q34243038) (← links)
• Metabolic syndrome features presenting in early childhood in Alström syndrome: a case report (Q34423641) (← links)
• Syndromic obesity: clinical implications of a correct diagnosis. (Q34501434) (← links)
• Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome (Q34522307) (← links)
• The human obesity gene map: the 2005 update (Q34567973) (← links)
• Ciliopathies: an expanding disease spectrum (Q34626170) (← links)
• The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations (Q34708889) (← links)
• EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome (Q34975099) (← links)
• The human obesity gene map: the 2002 update (Q35084465) (← links)
• Molecular basis of the obesity associated with Bardet-Biedl syndrome (Q35087636) (← links)
• Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader-Willi and Alström syndromes. (Q35100466) (← links)
• Isolation and characterization of the TIGA genes, whose transcripts are induced by growth arrest (Q35128048) (← links)
• Clinical utility gene card for: Alström syndrome (Q35304118) (← links)
• Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome (Q35546584) (← links)
• Novel Alu retrotransposon insertion leading to Alström syndrome (Q35691014) (← links)
• What have rare genetic syndromes taught us about the pathophysiology of the common forms of obesity? (Q35702600) (← links)
• The human obesity gene map: the 2003 update (Q35715184) (← links)
• Alström Syndrome: Mutation Spectrum of ALMS1. (Q35762928) (← links)
• Neurodegenerative disorders associated with diabetes mellitus (Q35791191) (← links)
• Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alström Syndrome. (Q35916546) (← links)