Results 81 to 90 of about 90,557 (301)

Comparative Oligo‐FISH Mapping Illuminates Chromosomal Evolution Among Rutaceae Species Diverged Over 50 Million Years

Advanced Science, EarlyView.
Oligonucleotide‐based fluorescence in situ hybridization probes were developed in the model citrus species Citrus maxima. These probes were applied to comparative karyotyping across 14 species in the Rutaceae family. This analysis revealed chromosomal evolution in lineages that diverged from Citrus nearly 52 million years ago.
Li He, Hainan Zhao, Xiaoxue Zeng, Zujun Yang, Wenting Li, Guoyan Zhang, Guangrong Li, Jian He, Bin Guan, Jiming Jiang   +9 more
wiley   +1 more source

Association between the CHEK2*1100delC germ line mutation and estrogen receptor status

, 2006
Already published data were further analyzed regarding the association between the CHEK2*1100delC germ line mutation and estrogen receptor (ER) status in patients with breast cancer.
Seynaeve, C., Tollenaar, R.A., de Bock, G.H.; id_orcid, Meijers-Heijboer, H., Blom, J., Cornelisse, C.J., Mourits, M.J.; id_orcid, Schutte, M., Brekelmans, C.T., Devilee, P., Krol-Warmerdam, E.M., Klijn, J.G., van Asperen, C.J.   +12 more
core   +2 more sources

Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del)

Stem Cell Research
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is a rare autosomal dominant disorder caused by a heterozygous mutation in the NOVA2 gene on chromosome 19q13.
Tingting Yin, Yanyan Qian, Xi Zhang, Yunfei Liao, Bingbing Wu, Sujuan Wang, Huijun Wang   +6 more
doaj   +1 more source

Generation of genomic-integration-free human induced pluripotent stem cells and the derived cardiomyocytes of X-linked dilated cardiomyopathy from DMD gene mutation

Stem Cell Research, 2020
We derived an integration-free induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of a 23-year-old male patient.
Sheng Zhu, Anna Hing Yee Law, Ruixia Deng, Ellen Ngar Yun Poon, Chun Wai Lo, Anna Ka Yee Kwong, Rui Liang, Kelvin Yuen Kwong Chan, Wai Lap Wong, Kian Cheng Tan-Un, W.W.M. Pim Pijnappel, Godfrey Chi Fung Chan, Sophelia Hoi Shan Chan   +12 more
doaj   +1 more source

Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia

, 2004
PURPOSE: Somatic mutations that result in the activation of the growth factor receptor KIT are commonly found in gastrointestinal stromal tumors (GISTs). Six families have been reported in which a germ-line mutation in KIT is associated with an autosomal
Sommer, G., Ellis, N., Offit, K., Antonescu, C. R., Besmer, P., Maki, R. G., Brennan, M., Robson, M. E., Nafa, K., Glogowski, E.   +9 more
core   +1 more source

Metabolic Imbalance Triggers Adaptive Remodeling to Accelerate Diploidization in Murine Haploid Embryonic Stem Cells

Advanced Science, EarlyView.
In this article, Shuai and colleagues demonstrate that metabolic remodeling drives self‐diploidization in murine haploid ESCs (haESCs). Mitochondrial dysfunction and imbalanced pyruvate metabolism underlie this process. Genome‐wide screening using haESCs identifies key mitochondrial quality‐control related genes, enabling a metabolism‐based medium that
Yi Fu, Wenhao Zhang, Yifan Zhang, Yu He, Yi Du, Yiding Zhao, Chunmeng Yao, Shengyi Sun, Xiaoyan Sheng, Qian Gao, Chao Tong, Ling Shuai   +11 more
wiley   +1 more source

Gastrointestinal tract cancers: Genetics, heritability and germ line mutations

Oncology Letters, 2017
Gastrointestinal (GI) tract cancers that arise due to genetic mutations affect a large number of individuals worldwide. Even though many of the GI tract cancers arise sporadically, few of these GI tract cancers harboring a hereditary predisposition are now recognized and well characterized.
openaire   +3 more sources

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers [PDF]

, 2012
<p>Introduction: Cis-acting regulatory single nucleotide polymorphisms (SNPs) at specific loci may modulate penetrance of germline mutations at the same loci by introducing different levels of expression of the wild-type allele.
Susan M Domchek, Frost, D., Beesley, Jonathan, Beesley, J., Jonathan Beesley, Couch, Fergus J, Samarajiwa, S., Caligo, Maria A., Ponder, Bruce A. J., Barkardottir, Rosa B., Ponder, Bruce AJ, Caligo, Maria, Adelaide, Sue Healey, Swe-brca, Swe-brca, Easton, Douglas F, Adlard, Julian, Barkardottir, Rosa B, Embrace, Embrace, Peock, Susan, Domchek, Susan, Gauthier-Villars, Marion, Heli Nevanlinna, Godwin, Andrew, null null, Xiaoqing Chen, Caligo, Maria,, Laurence Faivre, Sinilnikova, Olga M, Domchek, Susan M., Domchek, Susan M, Samarajiwa, Shamith, Georgia Chenevix-Trench, O'Reilly, M., Barkardottir, R.B., Mark Dunning, Evans, D,, Evans, D.G., Chen, Xiaoqing, Godwin, Andrew K, Couch, Fergus, Ponder, Bruce, Carlos Caldas, Debra Frost, Evans, D. G.; id_orcid, Curtis, Christina, Kartsonaki, C., Eccles, Diana, Nevanlinna, Heli, Einbeigi, Zakaria,, Nevanlinna, H., Izatt, Louise, Healey, S., Caldas, Carlos, McGuffog, Lesley, Evans, D, Gareth, Peock, S., Martin O'Reilly, Evans, D Gareth, Christiana Kartsonaki, Laurence Venat-Bouvet, Ponder, Bruce A.J., Diana Eccles, Adlard, J., Faivre, L., Mazoyer, Sylvie, Olga M Sinilnikova, Antoniou, A.C., Kartsonaki, Christiana, Venat-Bouvet, Laurence, Susan Peock, Louise Izatt, Rosa B Barkardottir, Easton, Douglas, Delnatte, C., McGuffog, L., Tobias, E.S., Julian Adlard, Chenevix-Trench, Georgia, Frost, Debra, Easton, Douglas F., Curtis, Christina N, Antoniou, Antonis, Suet-Feung Chin, Barkardottir, Rosa, Marion Gauthier-Villars, Venat-Bouvet, L., Godwin, A.K., Lesley McGuffog, Caligo, Maria-Adelaide, Couch, Fergus J., Antoniou, Antonis C, Christina N Curtis, Chin, Suet-Feung, Antoniou, Antonis C., Caligo, M.A., Gemo, Gemo, Couch, F.J., Sylvie Mazoyer, Sinilnikova, Olga, Andrew K Godwin, Stoppa-Lyonnet, D., Caligo, Maria Adelaide, Bruce AJ Ponder, Eeles, R., Chin, Suet Feung, Ponder, Bruce A J, D Gareth Evans, Eccles, D., Chen, X., Chin, S.F., O'Reilly, Martin, Capucine Delnatte, Ana-Teresa Maia, Easton, D.F., Delnatte, Capucine, Douglas F Easton, Dunning, M., Godwin, Andrew K., Maria Adelaide Caligo, Ros Eeles, Chenevix-Trench, G., Caldas, C., Domchek, S.M., Antonis C Antoniou, Curtis, C.N., Sinilnikova, O.M., Curtis, Christina N., Ponder, B.A.J., Sinilnikova, Olga M., Mazoyer, S., Eeles, Ros, Dunning, Mark, Dominique Stoppa-Lyonnet, Maia, A.T., Faivre, Laurence, Gauthier-Villars, M., Healey, Sue, kConFab, kConFab, Maia, Ana-Teresa, Stoppa-Lyonnet, Dominique, Shamith Samarajiwa, Fergus J Couch, Evans, D. Gareth, Izatt, L., Maia, Ana Teresa   +144 more
core   +1 more source

Introgressed Variation in TaMYB7‐A1 Drives Graded Dormancy and Climate‐Adaptive Pre‐Harvest Sprouting Resistance in Wheat

Advanced Science, EarlyView.
TaMYB7‐A1 directly activates TaABI5 to enhance ABA signaling and regulate ABA‐GA homeostasis, enforcing seed dormancy. Its superior allele, derived from wild einkorn introgression, harbors a MITE insertion that elevates expression and two amino acid substitutions that enhance transcriptional activity, collectively generating graded PHS resistance for ...
Hao Wang, Dongzhi Wang, Yafei Guo, Qi Zheng, Min Zhang, James Simmonds, Jian Hou, Xuemei Liu, Xuelei Lin, Xiaomin Bie, Xiansheng Zhang, Xiaohui Li, Yuan Chen, Xueyong Zhang, Cristobal Uauy, Fei Lu, Chengcai Chu, Zhixi Tian, Jun Xiao   +18 more
wiley   +1 more source

Establishment of a human induced pluripotent stem cell line from a patient with familial hypercholesterolemia carrying a frameshift mutation in LDLR gene

Stem Cell Research
Familial hypercholesterolemia is an autosomal dominant genetic disorder that often leads to abnormally high cholesterol levels in the body, which is closely related to early-onset coronary heart disease.
Yongjuan Ruan, Xiaowei Li, Jianzeng Dong, Youjian Zhang   +3 more
doaj   +1 more source