Results 181 to 190 of about 3,214 (198)

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 alterations that include obesity, hypertension, and chronic kidney disease (CDK).
Dipak Maskey, Ankita Jayakumar, Sumit R. Monu, Pablo A. Ortiz   +3 more
openaire   +1 more source

Five novel ALMS1 gene mutations in six patients with Alström syndrome

Journal of Pediatric Endocrinology and Metabolism, 2018
Abstract Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel mutational screening findings in six patients with Alström ...
Suna, Kılınç, Didem, Yücel-Yılmaz, Aylin, Ardagil, Süheyla, Apaydın, Diana, Valverde, Rıza Köksal, Özgül, Ayla, Güven   +6 more
openaire   +2 more sources

Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant

Journal of American Association for Pediatric Ophthalmology and Strabismus
We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome.
Rita Rodrigues, R. Santos Silva, Susana Penas, Ana Moleiro, S. Estrela Silva, Olinda Faria, Augusto Magalhães   +6 more
openaire   +2 more sources

Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene

Ophthalmic Genetics, 2018
Dear Editor,Alstrom syndrome (ALMS; MIM# 203800) is characterized by early onset cone-rod dystrophy (CRD), sensorineural hearing loss, obesity, cardiomyopathy, pulmonary disease, hepatic disease, r...
Alanoud Aldrees, Ehab Abdelkader, Hussain Al-Habboubi, Huda Alrwebah, Zuhair Rahbeeni, Patrik Schatz   +5 more
openaire   +2 more sources

[Analysis of ALMS1 gene variants in seven patients with Alström syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2021
To explore the genetic basis for 7 patients with Alström syndrome.DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis.Genetic testing revealed 12 variants of the ALMS1 gene among the 7 ...
Yu, Ding, Qianwen, Zhang, Yingzhong, He, Lei, Zhang, Niu, Li, Guoying, Chang, Yao, Chen, Jian, Wang, Jinjin, Wu, Lijun, Fu, Xiumin, Wang   +10 more
openaire   +1 more source

A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome

Journal of Pediatric Endocrinology and Metabolism, 2016
AbstractAlström syndrome (AS) is an extremely rare, autosomal recessive disorder characterised by multi-organ features that typically manifest within the first two decades of life. AS is caused by mutations in the Alström syndrome 1 (In the current study, two brothers from a first-cousin consanguineous family presented with a complex phenotype and were
Caley, Laxer, Sofia A, Rahman, Maha, Sherif, Sophia, Tahir, Atilla, Cayir, Huseyin, Demirbilek, Khalid, Hussain   +6 more
openaire   +2 more sources