Results 11 to 20 of about 2,695 (146)

New variants of ALMS1 gene and familial Alström syndrome case series [PDF]

Braz J Otorhinolaryngol
To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.This paper is a multi-disciplinary diagnostic evaluation, with genetic and audiological analysis that aims to report two new variants of the ALMS1 gene and to discuss the audiological evolution and ...
Isabela Carvalho de Queiroz, Natália Carasek, Luiza Costa Villela Ferreira, Lucas Alves Teixeira Oliveira, Fernando Massa Correia, Thaís Gomes Abrahão Elias, Fayez Bahmad   +6 more
europepmc   +4 more sources

Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients [PDF]

Genes, 2021
Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated
Brais Bea-Mascato, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, Diana Valverde   +7 more
openaire   +5 more sources

ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia [PDF]

Frontiers in Cell and Developmental Biology, 2021
In this study, we aimed to evaluate the role of ALMS1 in the morphology of primary cilia and regulation of cellular signaling using a knockdown model of the hTERT-RPE1 cell line. ALMS1 depletion resulted in the formation of longer cilia, which often displayed altered morphology as evidenced by extensive twisting and bending of the axoneme. Transforming
María Álvarez-Satta, María Álvarez-Satta, Mauro Lago-Docampo, Mauro Lago-Docampo, Brais Bea-Mascato, Brais Bea-Mascato, Carlos Solarat, Carlos Solarat, Sheila Castro-Sánchez, Sheila Castro-Sánchez, Søren T. Christensen, Diana Valverde, Diana Valverde   +12 more
openaire   +7 more sources

Classification of feline hypertrophic cardiomyopathy-associated gene variants according to the American College of Medical Genetics and Genomics guidelines. [PDF]

Front Vet Sci
Introduction The correct labeling of a genetic variant as pathogenic is important as breeding decisions based on incorrect DNA tests can lead to the unwarranted exclusion of animals, potentially compromising the long-term health of a population. In human
Boeykens F, Abitbol M, Anderson H, Dargar T, Ferrari P, Fox PR, Hayward JJ, Häggström J, Davison S, Kittleson MD, van Steenbeek F, Ljungvall I, Lyons LA, Longeri M, Ohlsson Å, Peelman L, Dufaure de Citres C, Smets P, Turba ME, Broeckx BJG.   +19 more
europepmc   +3 more sources

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome

Internal Medicine, 2021
Objective Alström syndrome is an autosomal recessive genetic disease caused by a mutation in the ALMS1 gene. Alström syndrome is clinically characterized by multisystem involvement, including sensorineural deafness, cone-rod dystrophy, nystagmus, obesity, insulin resistance, type 2 diabetes and hypogonadism.
Fang Yuan, Xiaoping Lan, Anqi Wang, Quanmei Xu, Shengnan Wu, Chunmei Wang, Zhao Liu, Fanyi Zeng, Yilin Wang, Simei Wang, Xiaona Luo, Yucai Chen, Wuhen Xu, Jia Jia   +13 more
openaire   +3 more sources

Alström Syndrome: Mutation Spectrum ofALMS1 [PDF]

Human Mutation, 2015
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes mellitus, cardiomyopathy, fibrosis, and multiple organ failure.
Stephen F. Kingsmore, Jan D. Marshall, Roberto Vettor, Hélène Dollfus, Darrell L. Dinwiddie, Darrell L. Dinwiddie, Francesca Favaretto, Gabriella Milan, Gayle B. Collin, Emily G. Farrow, Neil A. Miller, Jean Muller, Pietro Maffei, Juergen K Naggert   +13 more
openaire   +4 more sources

Alms1-disrupted mice recapitulate human Alström syndrome [PDF]

Human Molecular Genetics, 2005
Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressive disease characterized by neurosensory deficits and by metabolic defects including childhood obesity, hyperinsulinemia and Type 2 diabetes. Other features that are more variable in expressivity include dilated cardiomyopathy, hypertriglyceridemia, hypercholesterolemia ...
Collin, G B, Cyr, E, Bronson, R, Marshall, J D, Gifford, E J, Hicks, W, Murray, S A, Zheng, Q Y, Smith, R S, Nishina, P M, Naggert, J K   +10 more
openaire   +2 more sources

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy [PDF]

Journal of Medical Genetics, 2005
As part of a clinical study of Alstrom syndrome (MIM 203800) we sequentially ascertained seven families. Four of the families, pedigrees A–D (table 1), were consanguineous. In total there were 16 living affected individuals, aged 3–25 years. All had cone rod dystrophy that presented in the first 3 months of life with photophobia and nystagmus. The cone
Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C G   +24 more
openaire   +4 more sources

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts [PDF]

, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Eintracht, J, Forsythe, E, May-Simera, H, Moosajee, M   +3 more
core   +1 more source

Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report [PDF]

Experimental and Clinical Endocrinology & Diabetes Reports, 2017
Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing.
Lixin Shi, Lanrong Liu, Hong Li
openaire   +2 more sources