Results 181 to 190 of about 6,753,476 (214)

Nephron-specific deletion of ALMS1 (Alstrom syndrome 1) increases surface NKCC2 expression and NaCl reabsorption in the Thick Ascending Limb

Physiology, 2023
Mutations in the ALMS1 gene in humans cause Alström syndrome, characterized by progressive metabolic alterations that include obesity, hypertension, and chronic kidney disease (CKD).
Dipak Maskey, P. Ortiz
semanticscholar   +1 more source

1821-P: Foz Foz Mice with a Mutation in the Alms1 Gene Model the Metabolic Syndrome with Advanced Stages of Nonalcoholic Steatohepatitis and Fibrosis

Diabetes, 2020
Nonalcoholic fatty liver disease (NAFLD) and its progression to nonalcoholic steatohepatitis (NASH) is highly prevalent in modern societies frequently consuming diets rich in fats and carbohydrates. NASH is characterized by liver steatosis, inflammation and increased risk for liver fibrosis in human.
Jianying Liu, Shengping Wang, Katharine D’Aquino, George Ho, Nathaniel Wallace, Matthew M. Rankin, Fuyong Du, Simon A. Hinke, Kamal Albarazanji, Andrea R. Nawrocki   +9 more
openalex   +2 more sources

Faculty Opinions recommendation of Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature, 2002
Sue Malcolm
openalex   +2 more sources

Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing

Nigerian Journal of Clinical Practice, 2022
Alstrom syndrome (AS) is one type of monogenic diabetic syndromes caused by mutation in the ALMS1. Due to rare prevalence and overlaps of clinical symptoms, monogenic diabetes is often misdiagnosed.
Ming Zhong, Lingna Huang, Song-Jing Zhang, Sun-Jie Yan   +3 more
semanticscholar   +1 more source

Deletion of ALMS1 (Alstrom syndrome 1) in Thick Ascending Limbs (TALs) increases surface NKCC2 expression, NaCl reabsorption and causes salt sensitive hypertension

Physiology
Inactivating mutation in the ALMS1 gene cause Alström syndrom (ALMS) in humans, characterized by the early onset of obesity, hypertension, and chronic kidney disease (CKD). in the general population, single-nucleotide polymorphisms (SNPs) in the ALMS1
Dipak Maskey, Jessica Granados Pineda, T. Liao, Pablo A. Ortiz   +3 more
semanticscholar   +1 more source

Whole exome sequencing of ALMS1 gene identified a novel pathogenic homozygous mutation (c.3132_3133delAC/p.Gln1045ValfsTer2) in a turkish family

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
openaire   +1 more source

Thick Ascending Limbs (TALs)-specific deletion of ALMS1 (Alstrom syndrome 1) increases surface NKCC2 expression and NaCl reabsorption in the TAL

Physiology
The regulation of NKCC2 mediated NaCl reabsorption in Thick Ascending Libs (TALs) is essential to salt homeostasis and blood pressure regulation.
Dipak Maskey, Pablo A. Ortiz
semanticscholar   +1 more source

Cancer epigenetics in clinical practice

Ca-A Cancer Journal for Clinicians, 2023
Veronica Davalos, Manel Esteller
exaly  

Systemic therapy for hormone receptor‐positive/human epidermal growth factor receptor 2‐negative early stage and metastatic breast cancer

Ca-A Cancer Journal for Clinicians, 2023
Laura A Huppert, Hope S Rugo
exaly  

Gene symbol: ALMS1.

Human genetics, 2007
K J, Flintoff, Dragana, Josifova
openaire   +3 more sources