Results 31 to 40 of about 6,753,476 (214)

MP35-17 NOVEL PATHOGENIC VARIANRTS IN ALMS1 GENE IS ASSICIATED WITH PEYRONIE’S DISEASE AND DEPUYTREN’S DISEASE [PDF]

Journal of Urology, 2021
INTRODUCTION AND OBJECTIVE:Peyronie's disease (PD) is a fibrotic disease of the penis affecting up to 13% of men leading to debilitating penile curvature and inability to have intercourse.
Iakov Efimenko, Willy Chertman, Thomas A. Masterson, Anthony J. Griswold, Ranjith Ramasamy   +4 more
openalex   +2 more sources

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

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   +2 more sources

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome [PDF]

Nature Genetics, 2002
Alström 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). We have studied an individual with Alström syndrome carrying a familial balanced reciprocal chromosome translocation (46, XY,t(2;11)(p13;q21)mat ...
Tom Hearn, Glenn L. Renforth, C. Mirella Spalluto, Neil A. Hanley, Karen Piper Hanley, Sarah Brickwood, Chris White, V. Connolly, J F Taylor, Isabelle Russell‐Eggitt, Dominique Bonneau, Mark Walker, David I. Wilson   +12 more
openalex   +5 more sources

Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1

Gene, 2010
Mutations in the human gene ALMS1 cause Alström syndrome, a disorder characterised by neurosensory degeneration, metabolic defects and cardiomyopathy. ALMS1 encodes a centrosomal protein implicated in the assembly and maintenance of primary cilia. Expression of ALMS1 varies between tissues and recent data suggest that its transcription is modulated ...
Tracey L. Purvis, Tom Hearn, C. Mirella Spalluto, Victoria J. Knorz, Karen Piper Hanley, Tilman Sánchez-Elsner, Neil A. Hanley, David I. Wilson   +7 more
openalex   +4 more sources

Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene [PDF]

Acta Ophthalmologica, 2018
AbstractPurposeWe aim to describe ophthalmic characteristics and systemic findings in a cohort of seven patients with cone‐rod retinal dystrophy (CORD) caused by pathogenic variants in the ALMS1 gene.MethodsSeven patients with Alström syndrome (ALMS) were included in the study.
Fadi Nasser, N. Weisschuh, P. Maffei, G. Milan, Corina Heller, E. Zrenner, S. Kohl, L. Kuehlewein   +7 more
semanticscholar   +3 more sources

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, Barrett, Jeff, Barroso, Inês, Chen, Jian Hua, Durbin, Richard, Farooqi, Sadaf, Fitzpatrick, David, Geschwind, Daniel, Huang Doran, Isabel, Hurles, Matt, Kaye, Jane, Keane, Thomas, Kennedy, Karen, Langford, Cordelia, Mccarthy, Shane, Muddyman, Dawn, Owen, Michael, O’Rahilly, Stephen, Palotie, Aarno, Payne, Felicity, Richards, Bren, Savage, David B., SEGNI, Maria, Semple, Robert K., Sleigh, Alison, Soranzo, Nicole, Spector, Tim, Stalker, Jim, Timpson, Nic, Zeggini, Eleftheria   +29 more
core   +12 more sources

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Human Genome Variation, 2021
Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
doaj   +1 more source

alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.

PLoS ONE, 2021
Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes.
Lauren Parkinson, Tamara M Stawicki
doaj   +1 more source

Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. [PDF]

PLoS ONE, 2017
The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms.
Katarina Braune, Ines Volkmer, Martin S Staege   +2 more
doaj   +1 more source

Six Years of Genetic Diagnosis of Severe Early-Onset Obesity in a French Cohort. [PDF]

Obes Sci Pract
ABSTRACT Objective Obesity is a multifactorial disease with a strong genetic component. It is imperative to enhance the identification of genetic variations in their early and severe manifestations in order to facilitate the development of personalized therapeutic strategies, informed clinical care, and the facilitation of genetic counseling.
Rama M, Blond E, Janin A, Di-Filippo M, Cuerq C, Marmontel O, Rollat-Farnier PA, Dieterlen E, Segrestin B, Nicolino M, Disse E, Perge K, Collin-Chavagnac D.   +12 more
europepmc   +2 more sources