Results 101 to 110 of about 6,753,476 (214)

alms1 regulates the immune response and brain ageing in zebrafish

bioRxiv
The ALMS1 gene plays a crucial role in maintaining cellular homeostasis through its involvement in primary cilium assembly, cytoskeletal regulation, and signalling pathways such as NOTCH and TGF-β. Pathogenic variants in ALMS1 are associated with Alström
Brais Bea-Mascato, Luis Méndez-Martínez, Carolina Costas-Prado, Laura Guerrero-Peña, P. Suarez‐Bregua, Josep Rotllant, D. Valverde   +6 more
semanticscholar   +1 more source

Identification and Validation of a m6A‐Related Long Noncoding RNA Prognostic Model in Colorectal Cancer

Journal of Cellular and Molecular Medicine, Volume 29, Issue 2, January 2025.
ABSTRACT Accumulating research indicates that N6‐methyladenosine (m6A) modification plays a pivotal role in colorectal cancer (CRC). Hence, investigating the m6A‐related long noncoding RNAs (lncRNAs) significantly improves therapeutic strategies and prognostic assessments. This study aimed to develop and validate a prognostic model based on m6A‐related
Peng Jiang, Mingfei Chu, Yu Liang
wiley   +1 more source

Infantile Dilated Cardiomyopathy Diagnosed as Alstrom Syndrome in Later Childhood: A Report of Two Siblings

Indian Pediatrics Case Reports
Background: Alstrom syndrome is a rare autosomal recessive multisystem disorder due to a mutation in the ALMS1 gene, characterized by various combinations of dilated cardiomyopathy (DCM), cone-rod dystrophy, hearing loss, childhood obesity, Type 2 ...
Vimalarani Arulselvam, Suad Al Amer, Neale Nicola Kalis   +2 more
doaj   +1 more source

Overburden of rare ALMS1 deleterious variants in Chinese early‐onset type 2 diabetes with severe insulin resistance

Diabetes/Metabolism Research Reviews
Alström syndrome (AS) is a rare recessive disorder characterised by diabetes, obesity, insulin resistance (IR), and visual and hearing impairments. Mutations in the ALMS1 gene have been identified as the causative agents of AS.
Si-min Zhang, S. Gong, Meng Li, X. Cai, Wei Liu, Yingying Lou, Yumin Ma, Xiuying Zhang, Q. Ren, Yu Zhu, Jing Wu, Lingli Zhou, Yufeng Li, Xianghai Zhou, Xueyao Han, Linong Ji   +15 more
semanticscholar   +1 more source

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function [PDF]

, 2017
In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits.
Adam, Martin, Andrews, Jeanette S., Aspelund, Thor, Atkinson, Elizabeth J., Aulchenko, Yurii S., Bergmann, Sven, Biffar, Reiner, Boban, Mladen, Bochud, Murielle, Boerwinkle, Eric, Borecki, Ingrid B., Buckley, Brendan M., Böger, Carsten A., Campbell, Harry, Cavalieri, Margherita, Chasman, Daniel I., Chen, Ming-Huei, Chu, Audrey Y., Ciullo, Marina, Coassin, Stefan, Colhoun, Helen, Coresh, Josef, Cornelis, Marilyn C., Curhan, Gary C., de Andrade, Mariza, Dehghan, Abbas, Demirkan, Ayse, Deshmukh, Harshal, Ding, Jingzhong, Doney, Alex, Eiriksdottir, Gudny, Ellinghaus, David, Endlich, Karlhans, Ernst, Florian, Esko, Tõnu, Feitosa, Mary F., Ferrucci, Luigi, Ford, Ian, Foster, Meredith C., Fox, Caroline S., Franke, Andre, Freedman, Barry I., Fuchsberger, Christian, Gao, Xiaoyi, Gasparini, Paolo, Gieger, Christian, Gierman, Hinco J., Giulianini, Franco, Glazer, Nicole, Gorski, Mathias, Gudnason, Vilmundur, Gyllensten, Ulf, Harris, Tamara B., Hastie, Nick, Haun, Margot, Hayward, Caroline, Heid, Iris M., Helmer, Catherine, Hofman, Albert, Holliday, Elizabeth G., Homuth, Georg, Hu, Frank, Hundertmark, Claudia, Hwang, Shih-Jen, Igl, Wilmar, Illig, Thomas, Imboden, Medea, Isaacs, Aaron, Jacobs, Gunnar, Johansson, Åsa, Johnson, Andrew D., Jukema, J. Wouter, Kao, W.H. Linda, Kardia, Sharon L.R., Ketkar, Shamika, Kim, Stuart K., Koenig, Wolfgang, Kovacs, Peter, Kroemer, Heyo K., Kronenberg, Florian, Krämer, Bernhard K., Kutalik, Zoltan, Kähönen, Mika, Köttgen, Anna, Lambert, Jean-Charles, Launer, Lenore J., Lehtimäki, Terho, Li, Guo, Li, Man, Liu, Ching-Ti, Liu, Yongmei, Lohman, Kurt, Meisinger, Christa, Metspalu, Andres, Minelli, Cosetta, Mitchell, Braxton D., Mitchell, Paul, Murgia, Federico, Mägi, Reedik, Nauck, Matthias, Nikopensius, Tiit, Nöthlings, Ute, O'Connell, Jeffrey R., O'Seaghdha, Conall M., Olden, Matthias, Oostra, Ben A., Palmer, Colin, Parsa, Afshin, Pattaro, Cristian, Paulweber, Bernhard, Pirastu, Mario, Pistis, Giorgio, Polasek, Ozren, Portas, Laura, Pramstaller, Peter P., Probst-Hensch, Nicole M., Prokopenko, Inga, Province, Michael, Raitakari, Olli, Rao, Madhumathi, Rettig, Rainer, Ridker, Paul M., Rivadeneira, Fernando, Robino, Antonietta, Rudan, Igor, Ruggiero, Daniela, Sala, Cinzia, Schmidt, Helena, Schmidt, Reinhold, Shuldiner, Alan R., Siscovick, David S., Smith, Albert V., Sorice, Rossella, Stengel, Bénédicte, Stracke, Sylvia, Struchalin, Maksim, Stumvoll, Michael, Taliun, Daniel, Tanaka, Toshiko, Teumer, Alexander, Thun, Gian-Andri, Tin, Adrienne, Toniolo, Daniela, Trompet, Stella, Turner, Stephen T., Tönjes, Anke, Uitterlinden, Andre G., Ulivi, Sheila, van Duijn, Cornelia M., Viikari, Jorma, Vitart, Veronique, Vollenweider, Peter, Völker, Uwe, Völzke, Henry, Wang, Jie Jin, Wheeler, Heather E., Wild, Sarah H., Wilson, James F., Witteman, Jacqueline, Wright, Alan F., Yang, Qiong, Zaboli, Ghazal, Zemunik, Tatijana, Zgaga, Lina   +163 more
core  

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

ALMS1 KO rat: a new model of metabolic syndrome with spontaneous hypertension

bioRxiv
ALMS1 is a protein initially associated with Alström syndrome. This is a rare human disorder characterized by metabolic dysfunction, hypertension, obesity and hyperinsulinemia.
Ankita B. Jaykumar, Sumit R Monu, Mariela Mendez, N. Rhaleb, Pablo A. Ortiz   +4 more
semanticscholar   +1 more source

Cardiac magnetic resonance imaging in Alström syndrome

Orphanet Journal of Rare Diseases, 2009
Background A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients. Methods Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac ...
Carey Catherine M, Bellenger Nicholas G, Loudon Margaret A, Paisey Richard B   +3 more
doaj   +1 more source

Validated SNPs for eGFR and their associations with albuminuria [PDF]

, 2017
Albuminuria and reduced glomerular filtration rate are manifestations of chronic kidney disease (CKD) that predict end-stage renal disease, acute kidney injury, cardiovascular disease and death.
Bochud, Murielle, Böger, Carsten A., Chen, Ming-Huei, de Boer, Ian, Ellis, Jaclyn W., Foster, Meredith C., Fox, Caroline S., Kao, Linda, Köttgen, Anna, Larson, Martin G., Liu, Ching-Ti, O'Seaghdha, Conall M., Parsa, Afshin   +12 more
core  

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, Castro-Sánchez S, Valverde D   +2 more
doaj