Results 111 to 120 of about 247,558 (284)

Identification of 22 novel mutations in patients with Glanzmann's thrombasthenia [PDF]

, 2008
Glanzmann's thrombasthenia (GT) is an autosomal recessive inherited platelet function defect that characterized by reduction in, or absence of, platelet aggregation in response to multiple physiologic agonists. GT is characterized by normal platelet
Abdul Ethayathulla, Birendra Yadav, Firdos Ahmad, Meganathan Kannan, Rajive Kumar, Renu Saxena, Ved Choudhry   +6 more
core   +1 more source

Accumulation of driver and passenger mutations during tumor progression [PDF]

, 2009
Major efforts to sequence cancer genomes are now occurring throughout the world. Though the emerging data from these studies are illuminating, their reconciliation with epidemiologic and clinical observations poses a major challenge. In the current study,
B. Vogelstein, Barrick, Beerenwinkel, D. Kim, Dewanji, Durrett, Giardiello, Giardiello, Greenman, H. Carter, H. Ohtsuki, Haber, Huang, I. Bozic, K. W. Kinzler, Klein, Knudson, Komarova, Kraus-Ruppert, Lengauer, Ley, Louis, M. A. Nowak, Maley, Mimeault, Moolgavkar, Moolgavkar, R. Karchin, S. Chen, Simpson, T. Antal, Teschendorff, Vogelstein   +32 more
core   +4 more sources

PBRM1 Deficiency Reshapes an Immune Suppressive Microenvironment Through Epigenetic Tuning of PBRM1‐KDM5C‐IL6 Axis in ccRCC

Advanced Science, EarlyView.
PBRM1 ranks as the second most commonly mutated gene in ccRCC. This study reveals that PBRM1 loss promotes an immunosuppressive microenvironment by elevating M2 TAMs via the KDM5C–IL‐6 axis. These M2 TAMs, along with CAFs, form a barrier that excludes CD8+ T cells. Targeting IL‐6 synergizes with anti‐PD1 therapy, offering a promising strategy for PBRM1‐
Wenjiao Xia, Hongru Wang, Yu Dong, Zitong Yang, Yiyang Zhou, Zhinan Xia, Qinchen Li, Liangliang Ren, Yichun Zheng, Junliang Yan, Dongmei Ma, Zhi Chen, Xingang Cui, Guixin Zhu, Cheng Zhang   +14 more
wiley   +1 more source

Meta‐GWAS of Pig Semen Quality Traits Reveals Conserved Genes Regulating Mammalian Fertility

Advanced Science, EarlyView.
This study incorporated 14 210 individuals to perform a GWAS meta‐analysis of six semen quality traits. The GWAS meta‐analysis identifies 234 GWAS loci associated with semen quality traits. The incorporation with a functional genomics resource explains potential genetic regulation of ∼40% GWAS signals underlying semen quality traits.
Qing Lin, Xiaodian Cai, Zhanming Zhong, Tingting Li, Xinyou Chen, Wondossen Ayalew, Zhiting Xu, Chen Wei, Xiaoke Zhang, Hong Cheng, Zhenyang Zhang, Xuehua Li, Yongjie Tang, Siqian Chen, Jun Zhou, Jinglei Si, Xibo Wu, Chao Ning, Qishan Wang, Yuchun Pan, Yahui Gao, Jiaqi Li, Ying Yu, Zhe Zhang, Yunxiang Zhao, Lingzhao Fang, Zhe Zhang   +26 more
wiley   +1 more source

Congenital tooth agenesis-related EDAR variants and pedigree analysis of HED patients with two variants

Shanghai Jiaotong Daxue xuebao. Yixue ban
Objective·To explore EDAR (ectodysplasin A receptor) gene variants that lead to congenital tooth agenesis, and preliminarily analyze the reasons why variants in EDAR can cause both syndromic and non-syndromic tooth agenesis.Methods·Patients with ...
LAN Rong, DAI Qinggang, YU Kang, BIAN Xiaoling, YE Lijuan, WU Yiqun, WANG Feng   +6 more
doaj   +1 more source

Missense Mutation in AR-CGD

, 2012
Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by impairment of intracellular microbicidal activity of phagocytes. Mutations in one of four known nicotinamide adenine dinucleotide phosphate (NADPH) -oxidase components preclude generation of superoxide and related antimicrobial oxidants, leading to
Köker, M. Yavuz, Avcilar, Hüseyin
openaire   +3 more sources

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Dominant missense mutations in ABCC9 cause Cantú syndrome

Nature Genetics, 2012
Cantú syndrome is characterized by congenital hypertrichosis, distinctive facial features, osteochondrodysplasia and cardiac defects. By using family-based exome sequencing, we identified a de novo mutation in ABCC9. Subsequently, we discovered novel dominant missense mutations in ABCC9 in 14 of the 16 individuals with Cantú syndrome examined.
Harakalova, M., van Harssel, J.J., Terhal, P.A., van Lieshout, S., Duran, K., Renkens, I., Amor, D.J., Wilson, L.C., Kirk, E.P., Turner, C.L., Shears, D., Garcia-Minaur, S., Lees, M.M., Ross, A., Venselaar, H., Vriend, G., Vriend, G., Takanari, H., Rook, M.B., van der Heyden, M.A., Asselbergs, F.W., Breur, H.M., Swinkels, M.E., Scurr, I.J., Smithson, S.F., Knoers, N.V.A.M., van der Smagt, J.J., Nijman, IJ, Kloosterman, W.P., van Haelst, M.M., van Haaften, G., Cuppen, E.   +31 more
openaire   +8 more sources

Genome‐Wide Association Analyses Reveal the Genetic Basis of EMS Mutagenesis Efficiency in Rice

Advanced Science, EarlyView.
Based on large‐scale screening of 420 rice accessions, GWAS identified the Rc locus as a key regulator of EMS mutagenesis efficiency. Functional Rc alleles enhance both seed survival and genome‐wide mutation frequency by boosting antioxidant enzyme activities (CAT, SOD, POD) and reducing oxidative damage.
Peizhou Xu, Qinglu Zhang, Le Xue, Zhen Zhang, Nanhui Luo, Zhaoyang Cheng, Duo Xia, Shuqin Zheng, Xianjun Wu, Hao Zhou   +9 more
wiley   +1 more source