Results 111 to 120 of about 1,783 (168)

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome.

, 2007
Alstrom syndrome is a monogenic recessive disorder featuring an array of clinical manifestations, with systemic fibrosis and multiple organ involvement, including retinal degeneration, hearing loss, childhood obesity, diabetes mellitus, dilated ...
Zhang, W, Wilson, D I, Martin, M, Vettor, R, Naggert, J K, Hearn, T, Veronese, C, Collin, G B, Milan, G, Hinman, E G, Beck, S, Tavares, P, Maffei, P, Cerqueira, R, So, W V, Marshall, J D, Nishina, P M   +16 more
core   +1 more source

Additional file 1 of Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report

Supplementary Material 1.
Hu, Ming, Chen, Shuang, Wu, Jinyuan, Wang, Rong   +3 more
openaire   +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  

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  

The Role Of Alström Syndrome 1 (alms1) In Hypertension, Salt Sensitivity And Metabolic Syndrome

, 2018
In humans, inactivating mutations in the Alström syndrome 1 (ALMS1) gene cause obesity, insulin resistance and hypertension (metabolic syndrome). More so, SNPs in the ALMS1 gene have been associated with kidney disease and cardiovascular disease.
King-Medina, Keyona Nicole
core  

Regulation of Alstrom syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity

, 2008
Alström syndrome (ALMS) is an autosomal recessive genetic disease with characteristic phenotypical features including multi-organ fibrosis, insulin resistance, obesity and type 2 diabetes.
Leandri, S, Naggert, J K, Vettor, R, Collin, G B, SCARDA A, ROMANO S, VERONESE C, COLLIN GB, MARSHALL JD, MAFFEI, PIETRO, Scarda, A, Marshall, J D, Favaretto, F, VETTOR, ROBERTO, FAVARETTO, FRANCESCA, Dal, Pra C, Veronese, C, Centobene, C, Milan, G, DAL PRA C, Romano, S, Maffei, P, MILAN, GABRIELLA, NAGGERT JK, CENTOBENE C, LEANDRI S   +25 more
core  

Knowledge mapping of alström syndrome research: a bibliometric and visualization analysis based on WoS data from 2000 to 2025. [PDF]

Front Genet
Zhang H, Fu H, Sui X, Si S, Zhang Y, Li K, Wang M, Song Z, Yang Y, Liu Z, Zhang G.   +10 more
europepmc   +1 more source

Comparison and Characteristics of MASLD Mouse Models. [PDF]

Biomedicines
Wei L, Gao C, Qin H.
europepmc   +1 more source

Type 1 Diabetes Mellitus in a Child With Genetically Confirmed Alström Syndrome: An Unusual Autoimmune Phenotype. [PDF]

Cureus
Alquraishi AS, Al Alammar N, Saad MM, Alqahtani RA.   +3 more
europepmc   +1 more source

Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models. [PDF]

Sci Rep
Bea-Mascato B, Giudice G, Pinheiro-de-Sousa I, Solarat C, Barbeito P, Petsalaki E, Valverde D.   +6 more
europepmc   +1 more source