Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://dx.doi.org/10.1111/nan.13004DOI Listing

Publication Analysis

Top Keywords

novel homozygous
4
homozygous nonsense
4
nonsense variant
4
variant col12a1
4
col12a1 myopathic
4
myopathic ehlers-danlos
4
ehlers-danlos syndrome
4
syndrome case
4
case report
4
report literature
4

Similar Publications

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 PDF

Mud 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 PDF

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 PDF

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 PDF

Non-canonical manifestations of FMF in homozygous M694V MEFV genotype: Insights from a large patient cohort.

Semin 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.

View Article and Find Full Text PDF