Results 51 to 60 of about 1,617 (137)

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2022
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi   +3 more
doaj   +1 more source

Genetically predicted KIR2DS4 mediate the association between gut microbe K10 and osteoporosis fractures: A mediation Mendelian randomization study

PM&R, EarlyView.
Abstract Background Osteoporosis fractures pose a significant public health concern, leading to substantial morbidity and mortality rates. The emerging evidence on the potential link between gut microbiota, proteins, and osteoporosis fractures suggests a complex relationship that warrants further investigation.
Qiong Wang, Qing Kuang, Cheng Chen, Binru Wang, Wei Xiang, Xinming Li, Jianjiao Mou   +6 more
wiley   +1 more source

A very early diagnosis of Alstrӧm syndrome by next generation sequencing

BMC Medical Genetics, 2020
Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi, Jan Miertus, Paolo Enrico Maltese, Simone Bressan, Luca De Antoni, Ludmila Podracká, Lucia Piteková, Vanda Rísová, Mari Mällo, Kaie Jaakson, Kairit Joost, Leonardo Colombo, Matteo Bertelli   +12 more
doaj   +1 more source

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

EBioMedicine, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee   +3 more
doaj   +1 more source

Can ammonia scavenging treat MASLD? Evaluating the evidence for L‐ornithine L‐aspartate—A systematic review

European Journal of Clinical Investigation, Volume 56, Issue 2, February 2026.
Abstract Introduction While hyperammonemia is traditionally associated with decompensated cirrhosis, emerging evidence suggests that disturbances in nitrogen homeostasis contribute to disease progression in earlier stages of steatohepatitis and fibrosis.
Abdulrahman Ismaiel, Vera Ciornolutchii, Stefan‐Lucian Popa, Dan L. Dumitrascu   +3 more
wiley   +1 more source

Metabolomic Signatures of Prediabetes in Mexican Americans: The Role of Genetics and Macronutrients

Advanced Genetics, Volume 6, Issue 4, December 2025.
We studied how genes and diet influence metabolites in Mexican Americans. We found new genetic links to 17 blood metabolites and discovered 7 interactions between genetic variants and macronutrients like protein and various types of fat. These findings could help personalize strategies for preventing diabetes based on genetic and dietary factors in ...
Shinhye Chung, Charles Evans, Charles F. Burant, Han Chen, Bing Yu, David Aguilar, Eric L. Brown, Craig L. Hanis, Goo Jun   +8 more
wiley   +1 more source

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

Six Years of Genetic Diagnosis of Severe Early‐Onset Obesity in a French Cohort

Obesity Science &Practice, Volume 11, Issue 6, December 2025.
ABSTRACT Objective Obesity is a multifactorial disease with a strong genetic component. It is imperative to enhance the identification of genetic variations in their early and severe manifestations in order to facilitate the development of personalized therapeutic strategies, informed clinical care, and the facilitation of genetic counseling.
M. Rama, E. Blond, A. Janin, M. Di‐Filippo, C. Cuerq, O. Marmontel, P. A. Rollat‐Farnier, E. Dieterlen, B. Segrestin, M. Nicolino, E. Disse, K. Perge, D. Collin‐Chavagnac   +12 more
wiley   +1 more source

Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History [PDF]

Molecular Biology and Evolution, 2009
Mutations in the human gene ALMS1 result in Alström Syndrome, which presents with early childhood obesity and insulin resistance leading to Type 2 diabetes. Previous genomewide scans for selection in the HapMap data based on linkage disequilibrium and population structure suggest that ALMS1 was subject to recent positive selection.
Laura B, Scheinfeldt, Shameek, Biswas, Jennifer, Madeoy, Caitlin F, Connelly, Eric E, Schadt, Joshua M, Akey   +5 more
openaire   +2 more sources

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

Frontiers in Genetics, 2020
Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Laura Mauring, Louise Frances Porter, Louise Frances Porter, Valerie Pelletier, Axelle Riehm, Anne-Sophie Leuvrey, Aurélie Gouronc, Fouzia Studer, Corinne Stoetzel, Helene Dollfus, Helene Dollfus, Helene Dollfus, Jean Muller, Jean Muller   +13 more
doaj   +1 more source