Results 121 to 130 of about 123,315 (302)

Integrating whole-exome sequencing and scRNA-seq reveal the characteristic in one clear cell renal cell carcinoma sample arising in the setting of VHL disease

Scientific Reports
Clear cell renal cell carcinoma (ccRCC) arising in the setting of von Hippel–Lindau (VHL) disease is a rare type of kidney cancer and features VHL germline mutation. This type of ccRCC is rarely characterised at the single-cell level. In this work, whole-
Wenhao Lu, Tingwei Jin, Xiaoxiang Yu, Yixuan Liu, Zheng Lu, Shengzhu Huang, Zheng Wen, Haibiao Yan, Cheng Su, Yu Ye, Ziyan Huang, Zengnan Mo, Zhenyuan Yu   +12 more
doaj   +1 more source

Germline breast cancer susceptibility gene mutations and breast cancer outcomes

BMC Cancer, 2018
Background It is unclear whether germline breast cancer susceptibility gene mutations affect breast cancer related outcomes. We wanted to evaluate mutation patterns in 20 breast cancer susceptibility genes and correlate the mutations with clinical ...
Yong Alison Wang, Jhih-Wei Jian, Chen-Fang Hung, Hung-Pin Peng, Chi-Fan Yang, Hung-Chun Skye Cheng, An-Suei Yang   +6 more
doaj   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer

, 2017
Whole exome sequencing (WES) was used to investigate two Italian siblings with wild-type RET genotype, who developed medullary thyroid cancers (MTCs) and, later, primary prostate and breast cancers, respectively.
Rosignolo, Francesca, Pecce, Valeria, Durante, Cosimo, Marandino, Ferdinando, Verrienti, Antonella, Fortina, Paolo, Eric Londin, Diego Russo, Filetti, Sebastiano, Ferdinando Marandino, Barnabei, Agnese, Marialuisa Appetecchia, Comoglio, Paolo M., Antonella Verrienti, Paolo Fortina, Alessandra Gentile, Gentile, Alessandra, Virzì, Anna Rita, Londin, Eric, Sebastiano Filetti, Melissa Milan, Russo, Diego, Anna Rita Virzì, Francesca Rosignolo, Cosimo Durante, Benvenuti, Silvia, Paolo M. Comoglio, Appetecchia, Marialuisa, Agnese Barnabei, Silvia Benvenuti, Marialuisa Sponziello, Valeria Pecce, Milan, Melissa, Sponziello, Marialuisa   +33 more
core   +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source

The Role of IgM Anti‐acetylated Protein Antibodies and B Cells in the Origin of Antimodified Protein Autoimmunity in Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Objective Rheumatoid arthritis (RA) is characterized by anti‐modified protein antibodies (AMPAs), including anti‐citrullinated protein antibodies (ACPA), anti‐carbamylated protein antibodies (anti‐CarP), and anti‐acetylated protein antibodies (AAPA). In contrast to other AMPAs, AAPA IgM is found in healthy individuals, raising questions about its role ...
Aegli Athanasiadou, Sanne Kroos, Renee van de Wetering, Rian Schopmeijer, Carin van der Keur, Michael Eikmans, Caroline Meijer, Solbritt Rantapää‐Dahlqvist, René E. M. Toes, Linda M. Slot, Diane van der Woude   +10 more
wiley   +1 more source

Impact of BRCA1/2 germline mutation on the incidence of second primary cancer following postoperative radiotherapy in patients with triple-negative breast cancer

Zhongguo aizheng zazhi
Background and purpose: BRCA1/2 plays an important role in maintaining the genome stability. Whether BRCA1/2 germline mutation could increase the tumor sensitivity to radiotherapy, thereby inducing secondary primary cancer after radiotherapy is unclear ...
Xiaoyu HU, Yuwen CAI, Fugui YE, Zhimin SHAO, Weigang HU, Keda YU   +5 more
doaj  

Recurrent BRCA1 and BRCA2 germline mutations in ovarian cancer: a founder mutation of BRCA1 identified in the Chinese population.

, 2002
Previous mutational analysis for BRCA gene mutations in sporadic ovarian cancer occurring in Chinese patients in Hong Kong identified six germline BRCA1 mutations and one germline BRCA2 mutation, six of which were novel (Khoo et al., 2000).
Choy, KW, Shen, DH, Pang, CP, Poon, AY, Khoo, US, Cheung, AN, Xue, WC, Ozcelik, H, Fung, KY, Chan, KY, Poon, CS, Ngan, HY   +11 more
core  

Patient‐Reported Outcomes with Selpercatinib Treatment Among Patients with RET‐Mutant Medullary Thyroid Cancer in the Phase I/II LIBRETTO‐001 Trial

The Oncologist, EarlyView., 2021
Abstract Background Medullary thyroid cancer (MTC) standard of care includes multikinase inhibitors (MKIs), which can exacerbate disease‐related diarrhea, primarily because of non‐RET kinase inhibition. We report diarrhea and other patient‐reported outcomes (PROs) with selpercatinib, a highly selective RET inhibitor, among patients with RET‐mutant MTC ...
Lori J. Wirth, Bruce Robinson, Valentina Boni, Daniel S.W. Tan, Caroline McCoach, Erminia Massarelli, Lisa M. Hess, Min‐Hua Jen, Jennifer Kherani, Elizabeth Olek, Vivek Subbiah   +10 more
wiley   +1 more source

Case Report: A novel germline donor splicing site mutation of RB1 gene in a Chinese Tibetan pedigree with familial retinoblastoma

Frontiers in Oncology
Retinoblastoma (RB) is the most common primary intraocular malignancy in children and mostly initiates with biallelic inactivation of the RB1 gene. Hereditary retinoblastoma accounts for 40% of all cases, with only 6%–10% of patients having a positive ...
Guo-qian He, Guo-qian He, Ying-chun Zheng, Lin-jun Tan, Lin-jun Tan, Cheng-qi Shen, Cheng-qi Shen, Ju Gao, Ju Gao, Fu Xiong, Xia Guo, Xia Guo   +11 more
doaj   +1 more source