Results 131 to 140 of about 6,753,476 (214)

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome [PDF]

, 2017
Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism.
Barrett, T, Beales, PL, Best, S, Bockenhauer, D, Borrows, S, Foggensteiner, L, Forsythe, E, Goldsmith, D, Hoskins, B, Milford, DV, Mohammed, S, Sabir, A, Sparks, K, Williams, D   +13 more
core  

CD1d affects the proliferation, migration, and apoptosis of human papillary thyroid carcinoma TPC-1 cells via regulating MAPK/NF-κB signaling pathway

Open Medicine
The study aimed to investigate the effect of CD1d down-regulation on the proliferation, migration, and apoptosis of papillary thyroid carcinoma cells and explore the underlying mechanism.
Liu Qingyuan, Zhai Tong, Ma Lei, Liu Qilun   +3 more
doaj   +1 more source

Additional file 6: of Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with AlstrĂśm syndrome

, 2017
Lin Yang, Zixiu Li, Mei Mei, Xiaomei Fan, Guodong Zhan, Huijun Wang, Guoying Huang, Mingbang Wang, Weidong Tian, Wenhao Zhou   +9 more
openalex   +1 more source

Alström Syndrome protein Alms1 is required for maintaining meiotic centriole engagement in spermatocytes of Drosophila

bioRxiv, 2023
Yanan Hou, Zhimao Wu, Qing Wei
semanticscholar   +1 more source

Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients [PDF]

, 2016
Brunak, Søren, Friis-Nielsen, Jens, Gonzalez-Izarzugaza, Jose Maria   +2 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

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

Integrating Multiomics and Machine Learning: Senescence-Regulated ALMS1-IT1/miR-7c-5p/HMGA2 Axis as a Novel Therapeutic Target for Head and Neck Squamous Cell Carcinoma. [PDF]

ACS Omega
Zhu Y, Yang Z, Luo Y, Qin L, Ma Y, Zhu J, Wang F, Peng L, Ying K, Qiu T, Xi Z, Wang Y, Sun M.   +12 more
europepmc   +1 more source

Refsum disease [PDF]

, 2015
Leroy, Bart, Wanders, Ronald JA, Waterham, Hans R   +2 more
core  

First live birth after <i>in vitro</i> fertilization in a woman with Alström syndrome: a case report. [PDF]

Front Reprod Health
Carosso AR, Carosso M, Revelli A, Canosa S, Marozio L, Gennarelli G, Maffei P, Ditaranto S, Benedetto C.   +8 more
europepmc   +1 more source