Results 81 to 90 of about 2,034 (157)

IMPROVE 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence

Clinical Obesity, Volume 15, Issue 5, October 2025.
ABSTRACT A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–15 December 2023 in Paris, France.
Karine Clément, Erica L. T. van den Akker, Jesús Argente, Phil Beales, Metin Cetiner, Béatrice Dubern, Sadaf Farooqi, Aurélie Gouronc, Peter Kühnen, Johanne Le Beyec, Louis Lebreton, David Meeker, Hermann L. Müller, Jean Muller, Christine Poitou, Patrick Sleiman, Christian Vaisse, Martin Wabitsch, Jacques Young, Hélène Dollfus   +19 more
wiley   +1 more source

Histopathology of the Human Inner Ear in Alström\u27s Syndrome. [PDF]

, 2015
Alström\u27s syndrome is an autosomal recessive syndromic genetic disorder caused by mutations in the ALMS1 gene. Sensorineural hearing loss occurs in greater than 85% of patients.
Bronson, Roderick T, Nadol, Joseph B, Marshall, Jan D.   +2 more
core  

Mouse models of ciliopathies: the state of the art

Disease Models & Mechanisms, 2012
The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS)
Dominic P. Norris, Daniel T. Grimes
doaj   +1 more source

A Practical Guide to Genetic Eye Conditions for Paediatricians

Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.
ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Differences in the clinical spectrum of two adolescent male patients with Alström syndrome. [PDF]

, 2013
Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia ...
Milenković, Tatjana, Kuburović, Nina, Collin, Gayle B, Nykamp, Keith, Djuric, Milena, Milenković, Svetislav, Ječmenica, Jovana, Naggert, Juergen K, Kuburović, Vladimir, Rakić, Sanja, Marshall, Jan D   +10 more
core  

Letter. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome [PDF]

, 2002
Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5).
Brickwood, Sarah, Walker, Mark, Hanley, Neil A., Renforth, Glenn L., Neil A. Hanley, Wilson, David I., Sarah Brickwood, James F.N. Taylor, David I. Wilson, Mark Walker, White, Chris, Spalluto, Cosma, Connolly, Vincent, Cosma Spalluto, Taylor, James F.N., Glenn L. Renforth, Piper Hanley, Karen; id_orcid, Chris White, Karen Piper, Isabelle Russell-Eggitt, Tom Hearn, Hearn, Tom, Taylor, James F N, Bonneau, Dominique, Dominique Bonneau, Vincent Connolly, Piper, Karen, Russell-Eggitt, Isabelle   +27 more
core   +1 more source

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
Our study identified mutations in genes in families associated with different eye disorders. We also explored the effect of a novel variant identified in the ALMS1 gene by using patient‐specific cells. Finally, previously published data was compiled to establish the genotype–phenotype relation.
Afeefa Jarral, Rabia Basharat, Sundus Sajid, Kinza Arshad, Imran Ali, Muhammad Ansar   +5 more
wiley   +1 more source

Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome. [PDF]

, 2016
Alström syndrome is a clinically complex disorder characterized by progressive degeneration of sensory functions, resulting in visual and audiological impairment as well as metabolic disturbances.
Masmoudi, Saber, Ennouri, Amine, Chakroun, Amine, Ben Said, Mariem, Mnif, Mouna, Ghorbel, Abdelmonem, Abid, Mohamed, Naggert, Juergen K, Achour, Imen, Marshall, Jan D.   +9 more
core   +1 more source

Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Research, 2020
To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > 
Xiaoli Ji, Qingyuan Tang, Chuanqing Tang, Ziyan Wu, Ling Ma, Xiaohong Guo, Guoqiang Cheng, Yuejun Chen, Tong Yang, Man Xiong, Wenhao Zhou   +10 more
doaj   +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