Results 151 to 160 of about 19,235 (265)

Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in SMG8 gene [PDF]

, 2023
André Aires Fernandes, Ana Grangeia, Leonor Dias, Joana Guimarães   +3 more
openalex   +1 more source

Compound heterozygosity [PDF]

, 2019
openaire   +1 more source

EIF5A Couples Translational Control With Transcriptional Reprogramming Through Chromocenter Reorganization During Spermiogenesis

Advanced Science, EarlyView.
The translation factor Eukaryotic translation initiation factor 5A (eIF5A) is essential for male fertility in mice. It supports the translation of proteins crucial for heterochromatin organization and acrosome formation. eIF5A deficiency disrupts chromocenter integrity, increases chromatin accessibility, and causes transcriptional dysregulation ...
Yuling Cai, Tongtong Li, Qian Fang, Ziyou Bao, Feng Kong, Huitao Qi, Hanzhen Li, Mingyu Zhang, Wei Wang, Yongxia Guan, Wenbo Liu, Xiangfeng Chen, Zi‐Jiang Chen, Xiaohua Jiang, Xin Wang, Hongbin Liu   +15 more
wiley   +1 more source

Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review. [PDF]

Front Genet, 2021
Xu L, Zhu D, Zhang Y, Liang G, Liang M, Wei X, Feng X, Wu X, Shang X.   +8 more
europepmc   +1 more source

Ocular Vascular Thrombotic Events: A Diagnostic Window to Familial Thrombophilia (Compound Factor V Leiden and Prothrombin Gene Heterozygosity) and Thrombosis [PDF]

, 2007
Charles J. Glueck, Ping Wang
openalex   +1 more source

Spinal Muscular Atrophy—Two Case Reports of Compound Heterozygosity [PDF]

US Neurology, 2019
Said R Beydoun, Leila Darki, Dana S Cooper   +2 more
openaire   +1 more source

Hepatocyte BPGM Induces RET Lactylation and Macrophage Reprogramming to Promote Tumorigenesis in Hepatocellular Carcinoma

Advanced Science, EarlyView.
Mechanistic schematic diagram.BPGM promotes the expression level of RET by increasing the lactylation of RET‐K549 and inhibiting its ubiquitination levels in HCC cells. Furthermore, BPGM in HCC cells could also promote M2 polarization in macrophages through lactate secretion. Both of the mechanisms could promote the progression of HCC. ABSTRACT Aerobic
Jiajia Zhang, Lu Shi, Liangliang Lin, Yang Zhang, Miao Zhang, Lili Wu, Yong Xia, Yaqiong Zhang, Peng Han, Likun Zhuang, Liang Shi   +10 more
wiley   +1 more source

Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family. [PDF]

Audiol Res, 2021
Ortore RP, Leone MP, Palumbo O, Petracca A, Trecca EMC, D'Ecclesia A, Vigliaroli CL, Micale L, Longo F, Melchionda S, Castori M.   +10 more
europepmc   +1 more source

Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V [PDF]

, 1997
Giancarlo Castaman, Barbara Lunghi, Edoardo Missiaglia, Francesco Bernardi, Francesco Rodeghiero   +4 more
openalex   +1 more source

Multi‐Tissue Genetic Regulation of RNA Editing in Pigs

Advanced Science, EarlyView.
This study presents the first multi‐tissue map of RNA editing and its genetic regulation in pigs. By integrating RNA editing profiles, edQTL mapping, GWAS, and cross‐species comparisons, this work establishes RNA editing as a distinct regulatory layer linking genetic variation to complex traits, highlighting its functional and evolutionary significance.
Xiangchun Pan, Wentao Gong, Xiaodian Cai, Jinyan Teng, Jiali Cai, Haonan Zeng, Wondossen Ayalew, Qingpeng Shen, Zhanming Zhong, Yifei Wang, Wenjing Zhang, Yuhan Tian, Dantong Xu, Yahui Gao, Hongwei Yin, Yuebo Zhang, Jiahui Hou, Tianru Zhou, Jiaqi Li, Lingzhao Fang, Xiaolong Yuan, Zhe Zhang   +21 more
wiley   +1 more source