Results 21 to 30 of about 2,695 (146)

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity [PDF]

, 2022
Background: ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Bea Mascato, Brais, Iglesias Rodríguez, Antía, Neira Goyanes, Elena, Valverde Pérez, Diana   +3 more
core   +1 more source

Identification of a novel ALMS1 mutation in a Chinese family with Alström syndrome [PDF]

Eye, 2008
To report a novel mutation of ALMS1 in a Chinese family with Alström syndrome.Observational case report and results of DNA analysis.A family including one patient and four unaffected relatives was examined clinically. One hundred normal Chinese individuals served as control subjects.
Liping Liu, Xueqing Chen, Bing Dong, Yan-Mei Li, Jianle Li   +4 more
openaire   +3 more sources

inPHAP: Interactive visualization of genotype and phased haplotype data [PDF]

, 2014
Background: To understand individual genomes it is necessary to look at the variations that lead to changes in phenotype and possibly to disease. However, genotype information alone is often not sufficient and additional knowledge regarding the phase of ...
Jäger, Günter, Nieselt, Kay, Peltzer, Alexander   +2 more
core   +3 more sources

Rare coding variants and X-linked loci associated with age at menarche [PDF]

, 2015
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance.
Altmaier, E, Antoniou, AC, Arriola, L, Balkau, B, Barbieri, C, Barricarte, A, Barroso, I, Boeing, H, Boerwinkle, E, Buring, JE, Campbell, A, Chasman, DI, Coviello, AD, Crisponi, L, Cucca, F, Day, FR, Deary, IJ, Deloukas, P, Demerath, EW, Dunning, AM, Easton, DF, Elks, CE, Esko, T, Forouhi, NG, Franceschini, N, Franks, PW, Gandin, I, Gonzalez, C, Grioni, S, Grove, ML, Gudbjartsson, DF, Hayward, C, He, C, Hinds, DA, Hocking, LJ, Hofman, A, Hu, FB, Huang, J, Huffman, JE, Jackson, RD, Kaaks, R, Karasik, D, Kerrison, ND, Key, TJ, Kriebel, J, Lange, EM, Lange, LA, Langenberg, C, Li, X, Liu, S, Luan, J, Lunetta, KL, Maegi, R, McCarthy, MI, McIntosh, AM, Metspalu, A, Mihailov, E, Morrison, AC, Murabito, JM, Murray, A, Navarro, C, Nilsson, PM, Ong, KK, Overvad, K, Padmanabhan, S, Palli, D, Panico, S, Pennell, CE, Perry, JRB, Pirie, A, Polasek, O, Porcu, E, Porteous, D, Ramon Quiros, J, Reiner, AP, Riboli, E, Ridker, PM, Rivadeneira, F, Robino, A, Rolandsson, O, Rose, LM, Rudan, I, Ruth, KS, Sacerdote, C, Sala, CF, Sanchez, M-J, Schick, UM, Schlessinger, D, Scott, RA, Sharp, SJ, Sims, M, Slimani, N, Smith, BH, Stefansson, K, Stoeckl, D, Stolk, L, Strauch, K, Streeten, EA, Sulem, P, Teumer, A, Thompson, DJ, Thorsteinsdottir, U, Tjonneland, A, Toniolo, D, Traglia, M, Tumino, R, Tung, JY, Uitterlinden, AG, Ulivi, S, van der A, DL, van der Schouw, YT, Visser, JA, Voelker, U, Voelzke, H, Vozzi, D, Wang, CA, Wareham, NJ, Wellons, M, Wilson, JG, Yerges-Armstrong, LM, Zygmunt, M   +120 more
core   +17 more sources

Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models. [PDF]

, 2023
Retinitis pigmentosa (RP) is an ocular disease characterized by the loss of night vision, followed by the loss of daylight vision. Daylight vision is initiated in the retina by cone photoreceptors, which are gradually lost in RP, often as bystanders in a
Cepko, Constance L, Collin, Gayle B, Kefalov, Vladimir J, Sun, Xiaomei, Wang, Sean K, Xue, Yunlu   +5 more
core   +2 more sources

New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome

BMC Ophthalmology, 2022
Abstract Purpose Alström Syndrome (AS) is an autosomal recessive hereditary disease with the characteristics of multiorgan dysfunction. Due to the heterogeneity of clinical manifestations of AS, genetic testing is crucial for the diagnosis of AS.
Wan-Yu Cheng, Mei-Jiao Ma, Shi-Qin Yuan, Xiao-long Qi, Wei-Ning Rong, Xun-Lun Sheng   +5 more
openaire   +3 more sources

RNAseq in fat pads from Alstrom syndrome 1 (ALMS1) Knockout rats support a role for ALMS1 in leptin release and fat metabolism in adipocytes.

The FASEB Journal, 2020
Inactivating mutations in the ALMS1 gene in humans cause early onset obesity and metabolic syndrome. Deletion of ALMS1 in rodents induces early onset obesity and insulin resistance on normal chow. The mechanisms by which ALMS1 cause obesity are not clear but likely involve the development of leptin resistance since adult ALMS1 KO rats are hyperphagic ...
Tandong Liao, Pablo A. Ortiz, Mariela Mendez, Victoria C. Ortiz   +3 more
openaire   +1 more source

Truncation of POC1A associated with short stature and extreme insulin resistance. [PDF]

, 2015
We describe a female proband with primordial dwarfism, skeletal dysplasia, facial dysmorphism, extreme dyslipidaemic insulin resistance and fatty liver associated with a novel homozygous frameshift mutation in POC1A, predicted to affect two of the three ...
Adams, Claire, Barroso, Inês, Chen, Jian-Hua, Huang-Doran, Isabel, O'Rahilly, Stephen, Payne, Felicity, Savage, David B, Segni, Maria, Semple, Robert K, Sleigh, Alison, UK10K Consortium   +10 more
core   +2 more sources

ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits [PDF]

Journal of Molecular Medicine, 2018
Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover pathways relevant to a range of other disorders including common forms ...
openaire   +5 more sources

Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria [PDF]

European Journal of Medical Genetics, 2014
We report on clinical and genetic studies in a non-consanguineous Irish sib-pair with infantile dilated cardiomyopathy and retinopathy. A diagnosis of Alström Syndrome (AS) was considered and diagnostic testing pursued. The Alströms gene (ALMS1) is very large (23 exons) and diagnostic testing of mutational hotspots (exon 6, 8 and 10) was negative ...
Emma Curtis, Paul A. McGettigan, Donal Brosnahan, Eileen P. Treacy, Sally Ann Lynch, Sally Ann Lynch, Sally Ann Lynch, Jillian P. Casey, Sean Ennis   +8 more
openaire   +4 more sources