Characterization of the murine lbx2 promoter, identification of the human homologue, and evaluation as a candidate for alstrom syndrome. [PDF]
, 2001 The murine Lbx2 gene is a member of the ladybird family of homeobox genes, which is expressed in the developing urogenital system, eye, and brain. Using transgenic mice, we demonstrate that 9 kb of the 5\u27 flanking region of mouse Lbx2 is able to ...
Liu, K C +7 more
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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome. [PDF]
, 2007 Alstrom 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 ...
Zhang, W +16 more
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A Case With Renal Failure, Hearing Loss and Double Ureters
Turkish Journal of Nephrology, 2019 In nephrology practice, the association of renal failure and deafness immediately brings to mind the Alport syndrome. However, in the differential diagnosis of deafness and renal failure a great number of syndromes ranging from Alport to Muckle-Wells ...
Kübra KAYNAR +6 more
doaj
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alstrom syndrome. [PDF]
, 2011 Bardet-Biedl syndrome (BBS; OMIM no. 209 900) and Alstrom syndrome (ALMS; OMIM no. 203 800) are rare, multisystem genetic disorders showing both a highly variable phenotype and considerable phenotypic overlap; they are included in the emerging group ...
Valverde, D +8 more
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Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome [PDF]
Alstrom syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5).
Walker M; Hanley NA; Renforth GL; Wilson DI; Piper K; Connolly V; Hearn T; Spalluto C; Brickwood S; White C; Taylor JFN; Russell-Eggitt I; Bonneau D
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Hypertension precedes metabolic syndrome in the alms1 (alstrom syndrome 1) knockout rat [PDF]
, 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
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Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. [PDF]
J Med Genet, 2023 Bea-Mascato B, Valverde D.
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Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families. [PDF]
, 1997 We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of clinical assessment. The affected subjects come from 5 nuclear families within this kindred.
Ludman, M D +6 more
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ALSTROM SYNDROME: A CASE REPORT
Journal of Evolution of Medical and Dental Sciences, 2015 Shivakumar B R, Hareesh R, Rekha G
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