Results 21 to 30 of about 108,497 (68)

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot–Marie–Tooth disease

Frontiers in Genetics
Introduction:Charcot–Marie–Tooth disease type 4C (CMT4C) OMIM#601596 stands out as one of the most prevalent forms of recessive motor sensory neuropathy worldwide. This disorder results from biallelic pathogenic variants in the SH3TC2 gene.Methods:Within
Olga Shchagina, Aysylu Murtazina, Polina Chausova, Mariya Orlova, Elena Dadali, Sergei Kurbatov, Sergei Kurbatov, Sergey Kutsev, Aleksander Polyakov   +8 more
doaj   +1 more source

Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay.

PLoS Genetics
The leiomodin (Lmod) family of actin-binding proteins play a critical role in muscle function, highlighted by the fact that mutations in all three family members (LMOD1-3) result in human myopathies.
Christopher T Pappas, Rachel M Mayfield, Ava E Dickerson, Lei Mi-Mi, Carol C Gregorio   +4 more
doaj   +1 more source

A novel IRF6 gene mutation impacting the regulation of TGFβ2-AS1 in the TGFβ pathway: A mechanism in the development of Van der Woude syndrome

Frontiers in Genetics
Several mutations in the IRF6 gene have been identified as a causative link to VWS. In this investigation, whole-exome sequencing (WES) and Sanger sequencing of a three-generation pedigree with an autosomal-dominant inheritance pattern affected by VWS ...
Zhiyang Zhao, Renjie Cui, Haoshu Chi, Teng Wan, Duan Ma, Jin Zhang, Ming Cai   +6 more
doaj   +1 more source

The molecular mechanism for carbon catabolite repression of the chitin response in Vibrio cholerae.

PLoS Genetics, 2023
Vibrio cholerae is a facultative pathogen that primarily occupies marine environments. In this niche, V. cholerae commonly interacts with the chitinous shells of crustacean zooplankton. As a chitinolytic microbe, V.
Virginia E Green, Catherine A Klancher, Shouji Yamamoto, Ankur B Dalia   +3 more
doaj   +1 more source

Evaluation of normalization methods for predicting quantitative phenotypes in metagenomic data analysis

Frontiers in Genetics
Genotype-to-phenotype mapping is an essential problem in the current genomic era. While qualitative case-control predictions have received significant attention, less emphasis has been placed on predicting quantitative phenotypes.
Beibei Wang, Beibei Wang, Beibei Wang, Yihui Luan, Yihui Luan, Yihui Luan   +5 more
doaj   +1 more source

The association between diets and periodontitis: a bidirectional two-sample Mendelian randomization study

Frontiers in Genetics
BackgroundPeriodontitis, a complex inflammatory condition, has been associated with dietary habits and antioxidants. While the association between certain dietary patterns and periodontitis has been documented, the bidirectional relationship remains ...
Xiaoyu Yang, Xiaoyu Yang, Xiaoyu Yang, Jingchan Wang, Jingchan Wang, Jingchan Wang, Houlin Hong, Xing Feng, Xing Feng, Xing Feng, Xiumei Zhang, Jinlin Song, Jinlin Song, Jinlin Song   +13 more
doaj   +1 more source

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies

HGG Advances
Summary: Approximately 20% of breast cancer cases are attributed to increased family risk, yet variation in BRCA1/2 can only explain 20%–25% of cases.
Jocelyn N. Plowman, Evanjalina J. Matoy, Lavanya V. Uppala, Samantha B. Draves, Cynthia J. Watson, Bridget A. Sefranek, Mark L. Stacey, Samuel P. Anderson, Michael A. Belshan, Elizabeth E. Blue, Chad D. Huff, Yusi Fu, Holly A.F. Stessman   +12 more
doaj   +1 more source

Effect of clinical whole exome sequencing in aetiological investigation and reproductive risk prediction for a couple with monogenic inherited diseases

Frontiers in Genetics
ObjectiveTo determine the genetic causes of monogenic inherited diseases in a couple using clinical whole exome sequencing (WES) and advise on their reproductive choices.MethodsWES was applied to a couple seeking reproductive advice, the female with ...
Yanan Wang, Yuqiong Chai, Jieqiong Wang, Mingya Gao, Weiwei Zang, Yujie Chang   +5 more
doaj   +1 more source

Genetic diversity and population structure analysis of a diverse panel of pea (Pisum sativum)

Frontiers in Genetics
Breeding resilient cultivars with increased tolerance to environmental stress and enhanced resistance to pests and diseases demands pre-breeding efforts that include understanding genetic diversity.
Haftom Brhane, Cecilia Hammenhag
doaj   +1 more source

A war on many fronts: cross disciplinary approaches for novel cancer treatment strategies

Frontiers in Genetics
Cancer is a disease characterized by uncontrolled cellular growth where cancer cells take advantage of surrounding cellular populations to obtain resources and promote invasion.
Adriana Del Pino Herrera, Meghan C. Ferrall-Fairbanks, Meghan C. Ferrall-Fairbanks   +2 more
doaj   +1 more source