Results 91 to 100 of about 123,315 (302)

Genetic landscape of Chinese colorectal cancer: insights into germline and somatic mutations

BMC Cancer
Background Germline pathogenic alleles predispose carriers to malignancies; failure to recognize the underlying cancer susceptibility and subsequent delayed diagnosis may lead to severe health impairment.
Fazhi Zhao, Hexin Lin, Rui Han, Meng Wang, Lin Yang, Dianfeng Tian, Liangqi Zhong, Pengxin Zhang, Queling Liu   +8 more
doaj   +1 more source

Somatic and germline mutations in endometrial cancer

Journal of Medicine and Life
Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as PTEN, PIK3CA, and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited.
Botea, Robert, Piron-Dumitrascu, Madalina, Georgescu, Tiberiu Augustin, Bohiltea, Camil Laurentiu, Voinea, Silviu Cristian, Varlas, Valentin Nicolae, Iacoban, Simona Raluca, Suciu, Nicolae   +7 more
openaire   +2 more sources

Lifting the veil on germline DDX41 mutations [PDF]

Blood, 2019
In this issue of Blood, Sebert et al made the intriguing observation that cases with germline DEAD-box helicase 41 (DDX41) mutations represent a unique entity among adult myeloid neoplasms (MNs), often with distinct clinical and molecular features.
openaire   +2 more sources

Xenogeneic Mitochondrial Transplantation Improves Selected Age‐Associated Phenotypes in Mice

Advanced Science, EarlyView.
Yak‐derived xenogeneic mitochondrial transplantation improves selected age‐associated phenotypes in mice, enhances mitochondrial functional readouts, and engages host mitochondrial quality‐control pathways. Broad tissue biodistribution, increased ATP production and mtDNA copy number, reduced ROS levels and dysfunctional mitochondria, improved motility ...
Wenpeng Li, Xijia Wang, Yaning Hu, Zhen Yang, Tian Niu, Xingbo Zhao   +5 more
wiley   +1 more source

Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients

, 2019
Rui Gong,1,2 Yuan He,1,2 Xiao-Yun Liu,1,2 Hai-Yun Wang,1,2 Li-Yue Sun,1,2 Xin-Hua Yang,1,2 Bin Li,3 Xin-Kai Cao,3 Zu-Lu Ye,1,2 Ling-Heng Kong,1,4 Da-Dong Zhang,3 Yu-Hong Li,1,5 Rui-Hua Xu,1,5 Jian-Yong Shao1,21State Key Laboratory of Oncology in South ...
Yang XH, Zhang DD, Gong R, Liu XY, Sun LY, Kong LH, Shao JY, Li YH, Wang HY, Ye ZL, He Y, Xu RH, Li B, Cao XK   +13 more
core  

Characteristics of MMR gene germline mutation carriers.

, 2016
Characteristics of MMR gene germline mutation carriers.
Li-Ling Chiu (751342), Chao A. Hsiung (10211), Reiping Tang (436410), Huei-Tzu Chien (751341), Kuan-Yi Hung (751344), Chih-Ching Yeh (301654), Tsai-Ping Lo (751343), Abram Bunya Kamiza (751340), Chih-Hsiung Lai (117103), Wen-Chang Wang (244435), Jeng-Fu You (751345), Ling-Ling Hsieh (117126)   +11 more
core   +1 more source

Placental Site Trophoblastic Tumor Acquires Immune Functions by Incorporating Host Maternal Genes

Advanced Science, EarlyView.
PSTT cells, through cell fusion with B cells, incorporate abundant non‐inherited maternal genes that are detectable by DNIMA. These hybrid cells acquire immunotherapy‐resistant genetic changes and increase the expression of B cell‐derived immune‐related molecules such as Ig, HLA, LILRB, SIGLEC10, and so on, creating an immunotolerant environment around
Kyosuke Kagami, Masanori Ono, Yasunari Mizumoto, Tatsuhito Kanda, Takashi Iizuka, Takiko Daikoku, Shin‐ichi Horike, Akira Hattori, Akihito Horie, Sachiko Minamiguchi, Tomoko Fujiwara, Kazuyoshi Hosomichi, Atsushi Tajima, Hirokazu Usui, Kaoru Abiko, Hiroshi Fujiwara   +15 more
wiley   +1 more source

Regulation of the self-renewal vs. differentiation decision in the C.elegans germline [PDF]

, 2011
Adult stem cells are the basis of our reproductive potential, of tissue growth and maintenance, and of wound healing and regeneration. Ageing phenotypes such as hair loss or brittle bones in fact reflect the gradual decline of the proliferative ...
Kalchhauser, Irene
core   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

Characteristics of Germline and Somatic Mutations of DNA Repair Genes in Korean Men with Prostate Cancer

The World Journal of Men's Health
Purpose: While the association between defect of DNA damage repair (DDR) genes and prostate cancer (PCa) risk is wellestablished, there has been a lack of data in East Asian population.
Hakmin Lee, Jin-Nyoung Ho, Sang Hun Song, Jong Jin Oh, Jung Sik Huh, Hak-Min Kim, Kwang Hyun Kim, Sunghan Kim, Seok-Soo Byun   +8 more
doaj   +1 more source