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Spectrum ofALMS1variants and evaluation of genotype-phenotype correlations in Alström syndrome
Human Mutation, 2007Alström syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated cardiomyopathy (DCM), urological dysfunction, and pulmonary, hepatic, and renal failure. We evaluated a large
MARSHALL JD +16 more
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Exaggerated Salt‐Sensitive Hypertension in the ALMS1 (Alstrom syndrome 1) Knockout Rat
The FASEB Journal, 2017We recently found that a protein named ALMS1 (Alstrom syndrome 1) is expressed in the kidney thick ascending limb (TAL) where it mediates endocytosis of the renal Na/K/2Cl cotransporter termed NKCC2. To study the role of ALMS1 in renal physiology we generated ALMS1 knockout (KO) rats in a Dahl salt‐sensitive genetic background via ...
Keyona N. King‐Medina +2 more
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Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
Ophthalmic Genetics, 2022Lijuan Huang +4 more
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Novel human pathological mutations. Gene symbol: ALMS1. Disease: Alstrom syndrome.
Human genetics, 2007K J, Flintoff, Odile, Boute-Benejean
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ClinVar submission of NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) novel nonsense variant
2016Ashwin Dalal, Aneek Das Bhowmik
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