Results 111 to 120 of about 19,235 (265)

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders

Human Genomics
Background Haplotype phasing plays an essential role in the analysis of variants associated with autosomal recessive disorders, particularly in verifying compound heterozygosity.
Jaeryuk Kim, Gu-Hwan Kim, Sunghee Min, Chang Ahn Seol, Eul-Ju Seo   +4 more
doaj   +1 more source

The Disordered Region of ASXL1 Acts as an Auto‐Regulator Through Condensation

Advanced Science, EarlyView.
ASXL1's long IDR encodes an electrostatic “basic platform + acidic brake” that autoregulates condensation. Truncation at a clinical hotspot lifts this brake, forming condensates that retarget BRD2, remodel local chromatin accessibility, and impair neutrophil maturation.
Xiao Fang, Qiwei Li, Wenqing Zhang
wiley   +1 more source

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia [PDF]

, 1998
L. Foubert, J. L. de Gennes, Pascale Benlian, Jacqueline Truffert, Miao Li, Michael R. Hayden   +5 more
openalex   +1 more source

LMO7 Suppresses Tumor‐Associated Macrophage Phagocytosis of Tumor Cells Through Degradation of LRP1

Advanced Science, EarlyView.
LMO7 in tumor‐associated macrophages suppresses phagocytosis of tumor cells and limits cytotoxic T lymphocytes infiltration, fostering tumor progression. Mechanistically, LMO7 mediates the ubiquitination and degradation of the phagocytic receptor LRP1, impairing its ability to engulf tumor cells and driving macrophages toward an antitumor phenotype ...
Mengkai Li, Tao Wang, Yuwen Zhong, Zhiming Wang, Wei Li, Zejian Wang, Xinyi Yang, Yu Qiao, Jianfeng Xiang, Wei Gu, Zishu Wang, Lei Sun, Feng Qian   +12 more
wiley   +1 more source

Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin [PDF]

, 2015
Jiwei Huang, Xinhua Zhang, Dun Liu, Xiaofeng Wei, Xuan Shang, Fu Xiong, Lihua Yu, Xiaolin Yin, Xiangmin Xu   +8 more
openalex   +1 more source

Compound heterozygosity for hemoglobins S and D [PDF]

American Journal of Hematology, 2015
Kirstin, Lund, Subarna, Chakravorty, Sarmad, Toma, Barbara J, Bain   +3 more
openaire   +2 more sources

Genomics Insights Into High‐Latitude Adaptation of Tibetan Macaques

Advanced Science, EarlyView.
Tibetan macaques exhibit unique adaptations to cold, high‐latitude environments, including shortened tails and enhanced fat storage. Genomic analyses reveal a species‐specific TBX6 mutation linked to tail reduction and selection on lipid metabolism genes.
Rusong Zhang, Ying Hu, Yang Teng, Jiwei Qi, Yangzhen Ciren, Lin Zhang, Qiao Du, Wencai Xu, Liang Zhou, Zhenxin Fan, Jinchuan Xing, Ming Li, Jing Li   +12 more
wiley   +1 more source

Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report. [PDF]

BMC Endocr Disord, 2023
Tian Q, Tang J, Wang L, Liu J, Li X, Cao Z, Tian Z.   +6 more
europepmc   +1 more source

Red Blood Cells Internalize Extracellular DNA via Apoptotic Bodies with Clinical Relevance to Cancer Patients

Advanced Science, EarlyView.
Mature red blood cells (RBCs) can capture extracellular DNA, with short fragments homologous to cfDNA. This uptake is mediated by apoptotic bodies, which induce RBC oxidative stress, deformation, and accelerated in vivo clearance. The rbcDNA abundance correlates with tumor burden and therapeutic response, highlighting its potential as a liquid biopsy ...
Zihang Zeng, Zongbi Yi, Jing Hu, Jiali Li, Yu Xu, Xiuli Guo, Qian Ji, Kaixiang Feng, Ying Zhang, Sirui Bai, Yushuang Tan, Yufei Yan, Linzhi Han, Jing Jiang, Tengfei Wang, Xiang Wang, Ziqing Zhan, Ruiying Huang, Jinfang Zhang, Conghua Xie, Binghe Xu   +20 more
wiley   +1 more source

Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly. [PDF]

Front Neurol, 2023
Salzano E, Niceta M, Pizzi S, Radio FC, Busè M, Mercadante F, Barresi S, Ferrara A, Mancini C, Tartaglia M, Piccione M.   +10 more
europepmc   +1 more source