Results 51 to 60 of about 113,813 (285)

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report

Frontiers in Endocrinology
ObjectiveTo describe the clinical presentation of a patient with early-onset diabetes and to report a novel heterozygous WFS1 variant of uncertain significance (VUS) identified in this case.
Wen Kan, Yunyang Wang, Yu Xue, Xiaoying Zhang, Lili Xu   +4 more
doaj   +1 more source

Genotyping of GATA4 gene variant (g296s) in Malaysian congenital heart disease subjects by real-time PCR high resolution melting analysis [PDF]

Journal of Medical Biochemistry, 2013
Background: Congenital heart disease (CHD) is the most common birth defect; however, the underlying etiology is unrecognized in the majority of cases.
Fawzi Nora, Vasudevan Ramachandran, Ismail Patimah, Alwi Mazeni, Fazli Abdul Aziz Ahmad, Almeamar Hussein, Mohamad Afiqa Nur, Etemad Ali   +7 more
doaj  

ZMAT1 Promotes Osteoclastogenesis Through TRIM46 Mediated YAP1 Degradation and Inhibits Osteoblastogenesis

Advanced Science, EarlyView.
Zmat1 deficiency mitigates pathological bone loss by impairing osteoclastogenesis and promoting osteoblastogenesis. Mechanistically, in osteoclasts, Zmat1 loss relieves transcriptional repression of the E3 ligase TRIM46, promoting YAP1 degradation and inhibiting osteoclastogenic genes.
Xinyu Chang, Yijin Hou, Likun Cui, Huiqi Yu, Rong Liu, Junhao Sui, Zhong Zheng, Lu Liu, Jie Chen, Mengchen Chen, Chen Ding, Shuogui Xu, Sheng Xu, Hao Zhang   +13 more
wiley   +1 more source

Compound heterozygous mutation in MTHFR gene lead to chronic cerebral venous thrombosis: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To report one case of chronic cerebral venous thrombosis (CVT) caused by compound heterozygous mutation in MTHFR gene, and to investigate the association between compound heterozygous mutation in MTHFR gene and chronic CVT as well as its ...
YU Xuan-yue, LIU Ke-xin, FAN Tie-ping, LI Shu-min, LIANG Xin-tian, LIU Yi   +5 more
doaj   +1 more source

Red Queen Processes Drive Positive Selection on Major Histocompatibility Complex (MHC) Genes. [PDF]

PLoS Computational Biology, 2015
Major Histocompatibility Complex (MHC) genes code for proteins involved in the incitation of the adaptive immune response in vertebrates, which is achieved through binding oligopeptides (antigens) of pathogenic origin.
Maciej Jan Ejsmond, Jacek Radwan
doaj   +1 more source

Independent associations of TOMM40 and APOE variants with body mass index [PDF]

, 2019
The TOMM40-APOE variants are known for their strong, antagonistic associations with Alzheimer's disease and body weight. While a stronger role of the APOE than TOMM40 variants in Alzheimer's disease was suggested, comparative contribution of the TOMM40 ...
Arbeev, Konstantin G, Bagley, Olivia, Christensen, Kaare, Culminskaya, Irina, Feitosa, Mary F, Huang, Jian, Kulminski, Alexander M, Loika, Yury, Long Life Family Study Research Group,, Yashin, Anatoliy I, Zmuda, Joseph M   +10 more
core   +2 more sources

ALKBH3 m1A Demethylase Deficiency Reduces Alzheimer's Amyloid‐β Pathology

Advanced Science, EarlyView.
This study identifies that ALKBH3‐driven m1A demethylation orchestrates Alzheimer's disease progression by disrupting mitochondrial and synaptic homeostasis. This epitranscriptomic mechanism suppresses PINK1‐mediated mitophagy via m1A erasure, leading to mitochondrial dysfunction, oxidative stress, elevated Aβ production, and impaired microglial ...
Yueyang Li, Sifei Yu, Kaidong Lu, Yujie Zhang, Mingjie Dong, Yan Peng, Liang Xue, Waleed Alam, Yuxuan Shui, Yi Zhou, Wuyunhan Ma, Meng Bao, Peiming Li, Peiyi Luo, Tiezhan Lu, Jiajia Li, Kang Zhang, Yuying Wang, Shuchen Yang, Nuoya Yin, Francesco Faiola, Zilong Gao, Jingfeng Zhou, Fei Zhao, Yali He, Magdalena J. Koziol   +25 more
wiley   +1 more source

Heterozygosity in NPC may be associated with neurologic and systemic phenotypes

Frontiers in Neurology
BackgroundNiemann-Pick disease type C (NPC) is a pan-ethnic, progressive, recessively inherited lysosomal disorder that affects 1:100,000 live births.
Tatiana Brémovà-Ertl, Sabina Tahirovic, Silva Katušić Hećimović, Kyriakos Martakis, Kyriakos Martakis, Marianne Rohrbach, Matthias Gautschi, Radhika Dhamija, Jaya Ganesh, Melinda Peters, Mark Walterfang, Susanne A. Schneider   +11 more
doaj   +1 more source

Additive and Partially Dominant Effects from Genomic Variation Contribute to Rice Heterosis

Advanced Science, EarlyView.
Additive and partially dominant effects, namely at mid‐parent levels or values between mid‐parent and parental levels, respectively, are the predominant inheritance patterns of heterosis‐associated molecules. These two genetic effects contribute to heterosis of agronomic traits in both rice and maize, as well as biomass heterosis in Arabidopsis ...
Zhiwu Dan, Yunping Chen, Wei Zhou, Yanghong Xu, Junran Huang, Yi Chen, Jizhou Meng, Guoxin Yao, Wenchao Huang   +8 more
wiley   +1 more source

Autosegregation of enzyme loci Me1 and Gpi2 in agamospermous progenies of triploid sugarbeet plants [PDF]

, 2010
Ratios of malic-enzyme (ME1) and glucosephosphate isomerase (GPI2) phenotypic classes were studied in agamospermous progenies of triploid sugar beet plants.
Evgenii Levites, Svetlana Kirikovich
core   +1 more source