Results 141 to 150 of about 1,783 (168)
Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström syndrome cardiomyopathy. [PDF]
Dis Model MechMcKay EJ +7 more
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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 +6 more
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Whole exome sequencing of ALMS1 gene identified a novel pathogenic homozygous mutation (c.3132_3133delAC/p.Gln1045ValfsTer2) in a turkish family [PDF]
, 2023 Backgroud: Alstrom syndrome (AS) is a rare autosomal recessive disorder caused by pathogenic mutation in ALMS1 (ALMS1 centrosome and basal body associated protein) gene. Case Presentation: A 13.5-year-old male patient, who was born from consanguineous parents of Turkish descent, applied due to the complaint of obesity and non palpable testes.
Kılıçaslan, O., Eröz, Recep
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Non-syndromic retinal dystrophy associated with homozygous mutations in the ALMS1 gene
Ophthalmic Genetics, 2018Dear 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 +5 more
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[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, 2021To 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 +10 more
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Obesity Research & Clinical Practice, 2017
In the present study we report on genetic analysis in a patient with developmental delay, truncal obesity and vision problem, to find the causative mutation. Whole exome sequencing was performed on genomic DNA extracted from whole blood of the patient which revealed a homozygous nonsense variant (c.2816T>A) in exon 8 of ALMS1 gene that results in a ...
Aneek, Das Bhowmik +3 more
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In the present study we report on genetic analysis in a patient with developmental delay, truncal obesity and vision problem, to find the causative mutation. Whole exome sequencing was performed on genomic DNA extracted from whole blood of the patient which revealed a homozygous nonsense variant (c.2816T>A) in exon 8 of ALMS1 gene that results in a ...
Aneek, Das Bhowmik +3 more
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Hypertension, 2015
Enhanced NaCl reabsorption by the thick ascending limb (TAL) is associated with salt sensitive hypertension in rodents and humans. NaCl absorption by the TAL depends on the apical Na/K/2Cl cotransporter - NKCC2. NKCC2 activity is regulated in part by protein-protein interactions with its carboxyl terminus that controls its trafficking to the apical ...
Ankita Bachhawat Jaykumar +4 more
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Enhanced NaCl reabsorption by the thick ascending limb (TAL) is associated with salt sensitive hypertension in rodents and humans. NaCl absorption by the TAL depends on the apical Na/K/2Cl cotransporter - NKCC2. NKCC2 activity is regulated in part by protein-protein interactions with its carboxyl terminus that controls its trafficking to the apical ...
Ankita Bachhawat Jaykumar +4 more
openaire +1 more source