Results 21 to 30 of about 615 (141)

Expression of ALMS1 in podocytes: possible role in filtration function

The FASEB Journal, 2022
Previously, we identified Alstrom Syndrome 1 (ALMS1) as an interacting partner of NKCC2 in the Thick Ascending limb of the loop of Henle (TAL). Mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by progressive metabolic ...
Monu, Sumit R, Ortiz, Pablo A, Maskey, Dipak, Jayakumar, Ankita   +3 more
core   +2 more sources

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

Experimental and Clinical Endocrinology & Diabetes Reports, 2017
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.
Hong Li, Lixin Shi, Lanrong Liu
core   +2 more sources

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

Gene, 2010
Mutations in the human gene ALMS1 cause Alström syndrome, a disorder characterised by neurosensory degeneration, metabolic defects and cardiomyopathy.
Cosma Spalluto, Tilman Sanchez-Elsner, Purvis, Tracey L., Knorz, Victoria J., Hanley, Neil A., Victoria J. Knorz, Sanchez-Elsner, Tilman, Hanley, Neil, Tracey L. Purvis, Neil A. Hanley, Wilson, David I., Tom Hearn, Hearn, Tom, David I. Wilson, Karen Piper Hanley, Hanley, Karen Piper, Hanley, Karen Piper; id_orcid, Spalluto, Cosma, Piper Hanley, Karen   +18 more
core   +4 more sources

Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families

Frontiers in Pediatrics, 2021
Background: Alström syndrome (AS) is a very rare childhood disorder characterized by cardiomyopathy, progressive hearing loss and blindness. Inherited genetic variants of ALMS1 gene are the known molecular cause of this disease.
Hadeel A. Alsufyani, Khalidah Nasser, Babajan Banaganapalli   +2 more
exaly   +3 more sources

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

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   +2 more sources

Adaptable centriole biogenesis via the intrinsically disordered protein ALMS1

Nature Communications
Centriole biogenesis is viewed as a template-free physical transformation where a cartwheel scaffold emerges to guide centriole growth and subsequently disassembles; however, the mechanism underlying cartwheel dynamics remains obscure.
Kanako Ozaki, Ting-Jui Ben Chang, Wen-Qing Yang, Avital Shulman, Denisse Izquierdo, Wann-Neng Jane, Won-Jing Wang, Tim Stearns, Jens Lüders, T. Tony Yang, Meng-Fu Bryan Tsou   +10 more
doaj   +3 more sources

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

EBioMedicine, 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 ...
Helen Louise May-Simera, Mariya Moosajee, Jonathan Eintracht   +2 more
exaly   +3 more sources

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

BMC Ophthalmology, 2022
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
doaj   +3 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.
Brosnahan, Donal, Casey, Jillian, McGettigan, Paul A., et al.   +3 more
core   +6 more sources

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

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   +2 more sources