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http://dx.doi.org/10.1111/nan.13004 | DOI Listing |
Mol Genet Genomics
September 2025
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3012, Bern, Switzerland.
The aim of this study was to investigate three unrelated Simmental calves with atypical white coat color, identify potential genetic causes using a trio-based whole-genome sequencing approach, and assess the prevalence of the identified variants in the breed. Several inherited alleles affecting coat color, ranging from fawn to red spotted and white-headed, have been described in Simmental cattle originating from Switzerland. However, no genetic variant has yet been associated with an almost completely white coat in this breed.
View Article and Find Full Text PDFMud crab () is an economically important aquaculture crustacean species in China and Southeast Asia countries. However, the catches of wild mud crabs declined sharply due to overfishing and environmental pollution. Therefore, it is necessary to understand the current genetic resources and population history of mud crab (), which would provide appropriate guidelines for genetic resource management and breeding programs.
View Article and Find Full Text PDFTurk J Obstet Gynecol
September 2025
Yüksek İhtisas University Faculty of Medicine, Department of Medical Genetics, Ankara, Türkiye.
Objective: Recurrent hydatidiform mole (RHM) is a rare disorder which is characterized by the presence of at least two molar pregnancies. The mutations in the and genes are responsible for the majority of recurrent molar pregnancies. This study aimed to demonstrate the diversity and frequency of and gene mutations in our Turkish cohort with recurrent molar pregnancies, and to establish genotype-phenotype correlation.
View Article and Find Full Text PDFInt J Dev Neurosci
October 2025
Pediatric Health Research Center, Mardani Azari Children Hospital, Tabriz University of Medical Sciences, Tabriz, Iran.
Global developmental delay (GDD) and intellectual disability (ID) affect up to 3% of the paediatric population, with a multifactorial aetiology that complicates genetic identification. To date, over 400 genes have been implicated in GDD. Here, we report a novel homozygous splice acceptor variant, NC_000001.
View Article and Find Full Text PDFSemin Arthritis Rheum
August 2025
Rheumatology Unit, Sheba Medical Center, Tel Hashomer. Ramat Gan, 52621, Israel; Gray Faculty of Medical and Health Sciences, Tel Aviv University, P.O.B 39040. Ramat Aviv, Tel Aviv 69978, Israel; Department of Medicine F, Sheba Medical Center, Tel Hashomer. Ramat Gan, 52621, Israel. Electronic addre
Objectives: The homozygous M694V genotype is associated with the most severe form of familial Mediterranean fever (FMF). This study aims to explore whether this genotype is linked not only to classical FMF features, but also to additional, non-canonical manifestations.
Methods: A hypothesis-generating study was conducted using an automated algorithm to extract data from structured medical records of patients followed at the FMF clinic of Sheba Medical Center between 2010 and 2020.