Results 111 to 120 of about 1,999 (178)
Deletion of ALMS1 (alstrom syndrome 1) enhances salt-sensitive hypertension, and induces insulin resistance and obesity in rats [PDF]
, 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 +4 more
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Exaggerated salt-sensitive hypertension in the ALMS1 (alstrom syndrome 1) knockout rat [PDF]
, 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 +2 more
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Alström syndrome: current perspectives
The Application of Clinical Genetics, 2015 María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M +2 more
doaj
Gülhane Tıp DergisiAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by pathogenic variants in the ALMS1 gene on chromosome 2p13, with multisystem involvement including the retina, cochlea, heart, liver, and kidneys.
Birce İzgi Akçay +4 more
doaj +1 more source
Interactome Analysis Reveals a Link of the Novel ALMS1-CEP70 Complex to Centrosomal Clusters
Molecular & Cellular ProteomicsAlström syndrome (ALMS) is a very rare autosomal-recessive disorder, causing a broad range of clinical defects most notably retinal degeneration, type 2 diabetes, and truncal obesity. The ALMS1 gene encodes a complex and huge ∼0.5 MDa protein, which has hampered analysis in the past.
Woerz, Franziska +10 more
openaire +2 more sources
Frontiers in GeneticsBackgroundAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural ...
Chun-Qiong Ran +3 more
doaj +1 more source
Role Of Alström Syndrome 1 (alms1) In Nkcc2 Endocytosis, Thick Ascending Limb Function, Blood Pressure Regulation And Metabolic Function [PDF]
, 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
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Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. [PDF]
, 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 +8 more
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