Results 41 to 50 of about 2,695 (146)

Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population [PDF]

, 2018
Genome-wide association studies (GWAS) have identified dozens of common genetic variants associated with risk of colorectal cancer (CRC). However, the majority of CRC heritability remains unclear.
A Forsberg, A Kottgen, Annika Lindblom, B Reva, B Zhang, C Genomes Project, C Laflamme, C Palles, C Yu, CA Boger, CE Bronner, CP Horgan, D Reinbach, DG Mollevi, F Chatzinasiou, F Haxho, FA Haggar, FS Leach, GB Collin, H Fischer, H Fischer, H Wang, HA Shihab, Hovsep Mahdessian, I Stefanaki, IA Adzhubei, J Groden, J Kong, J McClellan, Jenny Ringdahl, JI Goldstein, JM Schwarz, K Antonopoulou, K Chellappa, K Guda, K Lagerstedt Robinson, L Valle, M Lek, Malcolm Dunlop, Maria Timofeeva, MN Timofeeva, MX Qian, N Segui, N Whiffin, P Lichtenstein, Patrick Bryant, PC Ng, PK Magnusson, RD Weren, S Chun, S Jiao, S Purcell, S Supiot, SJ Winawer, Susan M. Farrington, T Bhuin, T Hearn, T Tanaka, T Uemura, TK Bera, U Peters, V Vymetalkova, Wen Liu, WL Charng, XF Liu, Xiang Jiao, Yong-Gang Yao   +66 more
core   +2 more sources

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease

Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.
Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer, Stefan Löfgren, Anna Lindstrand, Malin Kvarnung, Erik Björck   +4 more
wiley   +1 more source

LncRNA ALMS1-IT1 is a novel prognostic biomarker and correlated with immune infiltrates in colon adenocarcinoma

Medicine, 2022
Colon adenocarcinoma (COAD) is one of the most serious cancers. It is important to accurately predict prognosis and provide individualized treatment. Evidence suggests that clinicopathological features and immune status of the body are related to the occurrence and development of cancer.
Yuning Lin, Ying Li, Yongquan Chen, Zhongying Zhang   +3 more
openaire   +2 more sources

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

Clinical Genetics, EarlyView.
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

Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells

PLOS ONE, 2017
The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms. ALMS1 mutations cause Alstrom syndrome, a rare genetic disorder. However, its function is not completely understood.
Katarina Braune, Ines Volkmer, Martin S. Staege   +2 more
openaire   +5 more sources

Derivation of cochlear cells from pathological or isogenic human iPSCs for modeling hereditary hearing loss [PDF]

, 2016
Alström Syndrome (AS) is a human autosomal recessive genetic disorder characterized by numerous clinical symptoms including deafness. AS is caused by mutations in the ALMS1 gene encoding for ALMS1 protein expressed at the basal body and implicated in ...
Czajkowski, Amandine, Delacroix, Laurence, Grobarczyk, Benjamin, Hanon, Kevin, LEFEBVRE, Philippe, Malgrange, Brigitte   +5 more
core  

Characterisation of infantile cardiomyopathy in Alström Syndrome using ALMS1 Knockout induced pluripotent stem cell derived cardiomyocyte model [PDF]

Alström syndrome (AS) is an inherited rare ciliopathy characterised by multi -organ dysfunction and premature cardiovascular disease. This may manifest as an infantile -onset dilated cardiomyopathy with significant associated mortality.
Azad, Amar, Barlow, Jonathan, Chikermane, Ashish, Davies, Ben, Geberhiwot, Tarek, Gehmlich, Katja, Hall, Caitlin, Nieves, Daniel, O'Shea, Christopher, Patel, Leena, Pavlovic, Davor, Rath, Phalguni, Roy, Ashwin, Steeds, Richard   +13 more
core   +1 more source

Young‐onset type 2 diabetes—Epidemiology, pathophysiology, and management

Journal of Diabetes Investigation, EarlyView.
The burden of young‐onset type 2 diabetes is increasing globally, disproportionately affecting non‐White ethnic groups and low‐ and middle‐income countries. Young‐onset type 2 is more heterogeneous regarding the genetic and environmental contributions to its underlying pathophysiology, which poses challenges for glycemic management.
Andrea O.Y. Luk, Hongjiang Wu, Yingnan Fan, Baoqi Fan, Chun Kwan O, Juliana C.N. Chan   +5 more
wiley   +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  

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, EarlyView.
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