Results 81 to 90 of about 3,214 (198)

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]

Diabetes & Metabolism Journal, 2015
BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
doaj   +1 more source

Alström Syndrome: Four Case Reports [PDF]

, 2009
A Síndrome de Alström (SA, MIM# 203800) é uma doença hereditária, de transmissão autossómica recessiva, descrita pela primeira vez em 1959, por Alström. O gene ALMS1, causador da doença, foi identificado em 2002 e localiza-se no cromossoma 2p13.
Fonseca, G, Kay, T, Lopes, L, Lourenço, T, Melo, A, Pina, R, Santa Marta, I, Xavier, A   +7 more
core  

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

Cellular modelling of Alström syndrome in human primary dermal fibroblasts and derived cells [PDF]

, 2012
RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Barrett, TG, Chen, J-H, Hales, M, Paisey, RB, Semple, RK   +4 more
core   +1 more source

Clusters of adaptive evolution in the human genome

Frontiers in Genetics, 2011
Considerable work has been devoted to identifying regions of the human genome that have been subjected to recent positive selection. Although detailed follow-up studies of putatively selected regions are critical for a deeper understanding of human ...
Laura B. Scheinfeldt, Shameek eBiswas, Jennifer eMadeoy, Caitlin F. Connelly, Joshua eAkey   +4 more
doaj   +1 more source

Endoplasmic reticulum stress does not contribute to steatohepatitis in obese and insulin resistant high-fat diet fed foz/foz mice

, 2016
Non-alcoholic fatty liver (steatosis) and steatohepatitis [non-alcoholic steatohepatitis (NASH)] are hepatic complications of the metabolic syndrome.
Español-Suñer, Regina, Farrell, Geoffrey C, Horsmans, Yves, Lambert, Barbara, Leclercq, Isabelle A, Legry, Vanessa, Molendi-Coste, Olivier, Poekes, Laurence, Rooyen, Derrick M Van, Sempoux, Christine   +9 more
core   +1 more source

Alström syndrome caused by maternal uniparental disomy

American Journal of Ophthalmology Case Reports, 2023
Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous pathogenic
Madeline Q.R. Lopour, Lisa A. Schimmenti, Nicole J. Boczek, Hutton M. Kearney, Arlene V. Drack, Michael C. Brodsky   +5 more
doaj   +1 more source

Whole-exome analysis in osteosarcoma to identify a personalized therapy [PDF]

, 2017
Osteosarcoma is the most common pediatric primary non-hematopoietic bone tumor. Survival of these young patients is related to the response to chemotherapy and development of metastases.
Aretini, Paolo, Carletti, Raffaella, Chiappetta, Caterina, Civita, Prospero, De Gregorio, Veronica, DELLA ROCCA, Carlo, DI CRISTOFANO, Claudio, Franceschi, Sara, Lessi, Francesca, Mancini, Massimiliano, Mazzanti, Chiara M., Naccarato, Antonio G., Petrozza, Vincenzo, Puggioni, Chiara   +13 more
core   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source