Results 91 to 100 of about 1,783 (168)

Alström syndrome: current perspectives

The Application of Clinical Genetics, 2015
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M, Castro-Sánchez S, Valverde D   +2 more
doaj  

Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731

, 2010
Mutations in the human gene ALMS1 cause Alström syndrome, a rare progressive condition characterized by neurosensory degeneration and metabolic defects. ALMS1 protein localizes to the centrosome and has been implicated in the assembly and/or maintenance ...
Cosma Spalluto, Adigun, Fiona F., Purvis, Tracey L., Knorz, Victoria J., Hanley, Neil A., Victoria J. Knorz, Hanley, Neil, Neil A. Hanley, Wilson, David I., Thomas Hearn, Hearn, Thomas, Lessard, Mark, Mark Lessard, Gayle B. Collin, David I. Wilson, Fiona F. Adigun, Collin, Gayle B., Hanley, Neil A.; id_orcid, Tracey L. Purvis, Spalluto, Cosma   +19 more
core   +1 more source

Additional file 1: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of the results of the WGS statistics in the family. (PDF 12Â kb)
Yang, Lin, Li, Zixiu, Mei, Mei, Fan, Xiaomei, Zhan, Guodong, Wang, Huijun, Huang, Guoying, Wang, Mingbang, Tian, Weidong, Zhou, Wenhao   +9 more
openaire   +1 more source

Additional file 4: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of SNV identification after polymorphism in the dbSNP and 1000 Genome Project were filtered. (DOCX 16 kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

A novel ALMS1 homozygous mutation in two Turkish brothers with Alstrom syndrome

, 2016
Background: Alstrom syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life.
Demirbilek, HÜSEYİN, Cayir, Atilla, Sherif, Maha, Hussain, Khalid, Tahir, Sophia, Rahman, Sofia A., Laxer, Caley   +6 more
core   +1 more source

Alström syndrome—wide clinical variability within the same variant: a case report and literature review

Frontiers in Pediatrics
BackgroundAlström disease is a rare disorder caused by various variants in the ALMS1 gene. It is characterised by multiorgan involvement, namely neurosensory deficits, endocrine and metabolic disturbances, cardiomyopathy, and hepatic and renal ...
Diana Jecan-Toader, Diana Jecan-Toader, Adrian Trifa, Adrian Trifa, Adrian Trifa, Bogdan Lucian, Tudor Lucian Pop, Tudor Lucian Pop, Simona Sorana Cainap, Simona Sorana Cainap   +9 more
doaj   +1 more source

Additional file 2: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of SNV identification in the family. (DOCX 16Â kb)
Yang, Lin, Zixiu Li, Mei, Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openaire   +1 more source

Hypertension precedes metabolic syndrome in the alms1 (alstrom syndrome 1) knockout rat

, 2018
We previously found that Alstrom syndrome 1 protein (ALMS1) is expressed in the kidney where it regulates thick ascending limb (TAL) NaCl reabsorption by controlling NKCC2 endocytosis.
Ortiz, Pablo A, King-Medina, Keyona N
core  

Additional file 5: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Summary of InDels identification after polymorphism in the dbSNP and 1000 Genome Project were filtered. (DOCX 15 kb)
Yang, Lin, Li, Zixiu, Mei, Mei, Fan, Xiaomei, Zhan, Guodong, Wang, Huijun, Huang, Guoying, Wang, Mingbang, Tian, Weidong, Zhou, Wenhao   +9 more
openaire   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source