Results 1 to 10 of about 1,617 (137)

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing [PDF]

Molecular Genetics & Genomic Medicine
Background Inherited eye disorders are a significant cause of vision loss worldwide. According to the World Health Organization (WHO) estimates approximately 2.2 billion people have some degree of vision loss, but a significant proportion of these are ...
Afeefa Jarral, Rabia Basharat, Sundus Sajid, Kinza Arshad, Imran Ali, Muhammad Ansar   +5 more
doaj   +3 more sources

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome [PDF]

Molecular Metabolism, 2023
Objective: Alström Syndrome (AS), caused by biallelic ALMS1 mutations, includes obesity with disproportionately severe insulin resistant diabetes, dyslipidemia, and fatty liver.
Eleanor J. McKay, Ineke Luijten, Xiong Weng, Pablo B. Martinez de Morentin, Elvira De Frutos González, Zhanguo Gao, Mikhail G. Kolonin, Lora K. Heisler, Robert K. Semple   +8 more
doaj   +6 more sources

Exploring Contraindicated Medications and Corresponding Targeted Genes for Migraine Through Integrated Genetic Approaches [PDF]

Brain and Behavior
Objective To identify contraindicated medications and corresponding target genes for migraine and its subtypes. Method Utilizing the Genome‐Wide Association Studies (GWAS) for 14 medication‐use categories from UK Biobank and GWAS for migraine and its ...
Nan Wang, Weixuan Liang, Zhuofeng Wen, Wanzhe Liao, Zhixin Xie, Zhiyi Zhou, Ziyang Yang, Xitong Ju, Haobin Zhou, Chuiguo Huang   +9 more
doaj   +3 more sources

Drosophila Alms1 proteins regulate centriolar cartwheel assembly by enabling Plk4-Ana2 amplification loop [PDF]

The EMBO Journal
Centrioles play a central role in cell division by recruiting pericentriolar material (PCM) to form the centrosome. Alterations in centriole number or function lead to various diseases including cancer or microcephaly.
Marine Brunet, Joëlle Thomas, Jean-André Lapart, Léo Krüttli, Marine H Laporte, Maria Giovanna Riparbelli, Giuliano Callaini, Bénédicte Durand, Véronique Morel   +8 more
doaj   +4 more sources

Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand [PDF]

Animals
Recently, hypertrophic cardiomyopathy (HCM) in Sphynx cats has been associated with a variant in the gene encoding Alström syndrome protein 1 (ALMS1).
Joonbum Seo, Yvonne Loh, David J. Connolly, Virginia Luis Fuentes, Emily Dutton, Hayley Hunt, John S. Munday   +6 more
doaj   +4 more sources

Alms1 KO Rat: A New Model of Cardiometabolic Syndrome With Spontaneous Hypertension. [PDF]

Acta Physiol (Oxf)
ABSTRACT Alström syndrome 1 (ALMS1) is a protein linked to Alström syndrome, a rare genetic disorder characterized by obesity, insulin resistance, hyperinsulinemia, and hypertension. Genetic studies have further associated Alms1 with hypertension in human populations. However, the precise mechanisms by which ALMS1 regulates metabolic and cardiovascular
Jaykumar AB, Monu SR, Xu J, Mendez M, Yang XP, Rhaleb NE, Ortiz PA.   +6 more
europepmc   +2 more sources

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity. [PDF]

Obesity (Silver Spring)
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Faccioli N, Poitou C, Georget M, Bertin F, Azar-Kolakez A, Carette C, Faucher P, Gatta-Cherifi B, Gonneau-Lejeune J, Linglart A, Clément K, Le Beyec‐Le Bihan J, Dubern B.   +12 more
europepmc   +2 more sources

Identification of ACBP as a potential target in ciliopathic obesity through multi-omics network analysis [PDF]

Nature Communications
Ciliopathies are genetic disorders characterized by defective primary cilia function, with obesity as a clinical manifestation in certain cases, including Alström syndrome, which is caused by ALMS1 mutations.
Yaiza Corral Nieto, Amanda Gabrielly Fernández Pereira, Laura Ventura-San Pedro, Sonia Belén Paredes, Ana Elena Pérez-Cobas, María Perez-Lanzon, Sylvere Durand, Paula Moreno-Cruz, Laura Manrique, Rocío Benítez-Fernández, Héctor Leal Lassalle, Yulia A. Nevzorova, Francisco Javier Cubero, Élida Alechaga, Oscar J. Pozo, Patricia Boya, José Manuel Fuentes, Valentina Sica, Guido Kroemer, José Manuel Bravo-San Pedro   +19 more
doaj   +2 more sources

Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models [PDF]

Scientific Reports
The primary cilium is a sensory organelle that extends from the plasma membrane. It plays a vital role in physiological and developmental processes by controlling different signalling pathways such as WNT, Sonic hedgehog (SHh), and transforming growth ...
Brais Bea-Mascato, Girolamo Giudice, Iguaracy Pinheiro-de-Sousa, Carlos Solarat, Pablo Barbeito, Evangelia Petsalaki, Diana Valverde   +6 more
doaj   +2 more sources

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features [PDF]

Orphanet Journal of Rare Diseases
Background Alström syndrome (ALMS) is a rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in the ALMS1 gene, characterized by progressive cone-rod dystrophy, early-onset obesity, cardiomyopathy, and multiorgan ...
Yiguo Huang, Libo Wang, Qianwen Zhang, Shiyang Gao, Guoying Chang, Tingting Yu, Ru-en Yao, Yu Ding, Xiumin Wang   +8 more
doaj   +2 more sources