Results 111 to 120 of about 615 (141)

Deletion of ALMS1 (alstrom syndrome 1) enhances salt-sensitive hypertension, and induces insulin resistance and obesity in rats

, 2017
The Na/K/2Cl cotransporter NKCC2 mediates NaCl absorption by the Thick Ascending Limb (TAL). Increased NKCC2 activity and apical trafficking are associated with salt sensitive hypertension in rodents and humans.
Ortiz, Pablo A, Jaykumar, Ankita B, Caceres, Paulo S, Beierwaltes, William H, Henson, Emily L   +4 more
core   +1 more source

Exaggerated salt-sensitive hypertension in the ALMS1 (alstrom syndrome 1) knockout rat

, 2017
We recently found that a protein named ALMS1 (Alstrom syndrome 1) is expressed in the kidney thick ascending limb (TAL) where it mediates endocytosis of the renal Na/K/2Cl cotransporter termed NKCC2.
Ortiz, Pablo A, Jaykumar, Ankita B, King-Medina, K N   +2 more
core   +1 more source

Evaluation of the Oral Microbiome in Patients with Alström and Bardet-Biedl Syndromes and Their Heterozygous Family Members

Microorganisms
Alström (ALMS) and Bardet-Biedl syndromes (BBS) are rare ciliopathies characterized by obesity and hyperglycemia that lead to type 2 diabetes, but also other disorders, including neurodegeneration.
Ewa Zmysłowska-Polakowska, Tomasz Płoszaj, Sebastian Skoczylas, Julia Grzybowska-Adamowicz, Aleksandra Palatyńska-Ulatowska, Monika Łukomska-Szymańska, Agnieszka Zmysłowska   +6 more
doaj   +1 more source

alms1 regulates the immune response and brain ageing in zebrafish

ABSTRACT The ALMS1 gene plays a crucial role in maintaining cellular homeostasis through its involvement in primary cilium assembly, cytoskeletal regulation, and signalling pathways such as NOTCH and TGF-β.
Brais Bea-Mascato, Luis Méndez-Martínez, Carolina Costas-Prado, Laura Guerrero-Peña, Paula Suarez-Bregua, Josep Rotllant, Diana Valverde   +6 more
openaire   +1 more source

Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity.

, 2011
Alstrom Syndrome is a life-threatening disease characterized primarily by numerous metabolic abnormalities, retinal degeneration, cardiomyopathy, kidney and liver disease, and sensorineural hearing loss.
Collin, G, Kelly, J, Marshall, J, Nevill, G, Longo, Guess C, Benson, J, Naggert, J, Jagger, D, Forge, A   +8 more
core  

Role Of Alström Syndrome 1 (alms1) In Nkcc2 Endocytosis, Thick Ascending Limb Function, Blood Pressure Regulation And Metabolic Function

, 2017
NaCl absorption by the Thick Ascending Limb (TAL) is mediated by the apical Na+/K+/2Cl- co-transporter, NKCC2. Increased NKCC2 activity and apical trafficking are associated to salt sensitive hypertension in rodents and humans.
Jaykumar, Ankita Bachhawat
core  

Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus [PDF]

Diabetologia, 2003
L M, 't Hart, J A, Maassen, J M, Dekker, R J, Heine, J A, Maassen   +4 more
openaire   +2 more sources

Alström Syndrome: Mutation Spectrum of ALMS1

Human Mutation, 2015
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in ALMS1, is typically characterized by multisystem involvement including early cone-rod retinal dystrophy and blindness, hearing loss, childhood obesity, type 2 diabetes ...
Stephen Kingsmore, Gabriella Milan, Pietro Maffei   +2 more
exaly   +1 more source

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ALMS1

2018
Kari Branham, Mark E Pennesi, Thiran Jayasundera   +2 more
exaly   +2 more sources

Population genomic analysis of ALMS1 in humans reveals a surprisingly complex evolutionary history. [PDF]

Molecular Biology and Evolution, 2009
Mutations in the human gene ALMS1 result in Alström Syndrome, which presents with early childhood obesity and insulin resistance leading to Type 2 diabetes. Previous genomewide scans for selection in the HapMap data based on linkage disequilibrium and population structure suggest that ALMS1 was subject to recent positive selection.
Laura B Scheinfeldt, Joshua M. Akey, Eric E Schadt   +2 more
exaly   +3 more sources