Results 81 to 90 of about 2,857 (146)
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
Location, location, location: the evolutionary history of CD1 genes and the NKR-P1/ligand systems [PDF]
, 2016 CD1 genes encode cell surface molecules that present lipid antigens to various kinds of T lymphocytes of the immune system. The structures of CD1 genes and molecules are like the major histocompatibility complex (MHC) class I system, the loading of ...
Kaufman, Jim, Rogers, Sally L
core +2 more sources
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 +5 more
wiley +1 more source
Genetics of Growth Disorders-Which Patients Require Genetic Testing? [PDF]
, 2019 The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in
Argente, J +3 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
The progression from obesity to type 2 diabetes in Alström syndrome. [PDF]
, 1981 Rapporten är en studie av åtgärder mot kemiska hälsorisker inom kemisk industri.Rapporten är en studie av åtgärder mot kemiska hälsorisker inom kemisk ...
Bettini, V +13 more
core +4 more sources
Environmental proxies of antigen exposure explain variation in immune investment better than indices of pace of life. [PDF]
, 2014 Investment in immune defences is predicted to covary with a variety of ecologically and evolutionarily relevant axes, with pace of life and environmental antigen exposure being two examples.
Hegemann, Arne +7 more
core +4 more sources
Rare Case of Laurence–Moon–Bardet–Biedl Syndrome With Pulmonary Hypertension: A Case Report
Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT Laurence‐Moon‐Bardet‐Biedl Syndrome is a complicated polygenic disorder that can have lethal manifestations such as pulmonary hypertension. Early recognition, comprehensive medical treatment, and psychological intervention for the family are crucial, but survival is usually short in those with a poor functional status and increasingly impaired
Areeba Mariam Mehmood +7 more
wiley +1 more source
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 +10 more
doaj +1 more source
Improving the diagnosis of hyperphagia in melanocortin‐4 receptor pathway diseases
Obesity, Volume 33, Issue 7, Page 1217-1231, July 2025.Abstract Characteristics of hyperphagia include heightened and prolonged hunger, longer time to satiation, shorter duration of satiety, severe preoccupation with food (i.e., hyperphagic drive), abnormal food‐seeking behaviors, and distress or functional impairment when food is unavailable.
M. Jennifer Abuzzahab +8 more
wiley +1 more source