Results 111 to 120 of about 837,511 (259)

Genotype and clinical phenotype characteristics of MAX germline mutation–associated pheochromocytoma/paraganglioma syndrome

Frontiers in Endocrinology
ObjectiveThe aim of this study was to investigate the genotypic and clinical phenotypic characteristics of MAX germline mutation–associated pheochromocytoma (PCC) and paraganglioma (PGL).MethodsWe retrospectively analyzed the family investigation data ...
Bijun Lian, Bijun Lian, Bijun Lian, Jun Lu, Xudong Fang, Yiming Zhang, Wei Wang, Yi He, Hongyuan Yu, Feiping Li, Junwei Wang, Weiying Chen, Xiaoping Qi, Xiaoping Qi   +13 more
doaj   +1 more source

Somatic NGS read counts and germline frequency of post-twinning mutations.

, 2018
Somatic NGS read counts and germline frequency of post-twinning mutations.
Burkhard Rolf (6106985), Bruce Budowle (322785), Michael Krawczak (77525), Jacqueline Weber-Lehmann (6106982)   +3 more
core   +1 more source

Ischemic Postconditioning Protects Aged Myocardium Against Ischemia/Reperfusion Injury by Regulating Mitochondrial Dynamics via piR‐4913

Advanced Science, EarlyView.
A tiny RNA tips the scales of cardiac injury in aging. piR‐4913 recruits OGT to Drp1 and drives its O‐GlcNAcylation at Thr604, promoting excessive mitochondrial fission that aggravates ischemia‐reperfusion injury. Ischemic postconditioning silences this pathway to restore mitochondrial balance and protect the aged myocardium, revealing piR‐4913 as a ...
Xiangyu Zhao, Yanchun Li, Nan Li, Juan Zhang, Xiaolong Ma, Fei Yang, Ruihan Long, Yining Tian, Yichen Wang, Shengchao Ma, Huiping Zhang, Yideng Jiang   +11 more
wiley   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Occurrence of shared mtDNA mutations considered “germline mutations”

, 2015
Notes: The tables indicate the percentage of the mutated nucleotide (relative to the rCRS) on point-heteroplasmic positions. Only mutations, which occurred in more than one tissue sample of a patient, were included in these tables.
Florian Kronenberg (87557), Liane Fendt (782020), Dominic Pacher (782018), Georg Schäfer (279214), Lukas Forer (391284), Christof Seifarth (279215), Irma Sottsas (782021), Helmut Klocker (261562), Christian W. Huck (782022), Anita Kloss-Brandstätter (102643), Gertraud Erhart (102602), Sebastian Schönherr (391282), Andrea Stöckl (782019), Michael Rasse (782023), Hansi Weissensteiner (391281), Frank R. Kloss (782024)   +15 more
core   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer

npj Breast Cancer
Germline mutations in BRCA1 and BRCA2 (gBRCA1/2) are required for a PARP inhibitor therapy in patients with HER2-negative (HER2−) advanced breast cancer (aBC).
Peter A. Fasching, Chunling Hu, Steven N. Hart, Matthias Ruebner, Eric C. Polley, Rohan D. Gnanaolivu, Andreas D. Hartkopf, Hanna Huebner, Wolfgang Janni, Peyman Hadji, Hans Tesch, Sabrina Uhrig, Johannes Ettl, Michael P. Lux, Diana Lüftner, Markus Wallwiener, Lena A. Wurmthaler, Chloë Goossens, Volkmar Müller, Matthias W. Beckmann, Alexander Hein, Daniel Anetsberger, Erik Belleville, Pauline Wimberger, Michael Untch, Arif B. Ekici, Hans-Christian Kolberg, Arndt Hartmann, Florin-Andrei Taran, Tanja N. Fehm, Diethelm Wallwiener, Sara Y. Brucker, Andreas Schneeweiss, Lothar Häberle, Fergus J. Couch   +34 more
doaj   +1 more source

Mutations in BRCA1, BRCA2, and PALB2, and a panel of 50 cancer-associated genes in pancreatic ductal adenocarcinoma

Scientific Reports, 2018
Mutations in genes of the breast cancer susceptibility gene (BRCA) pathway, namely, BRCA1, BRCA2, and PALB2, can provide useful information for the efficacy of platinum-based or poly ADP-ribose polymerase inhibitors chemotherapeutic regimens.
Shoko Takeuchi, Manami Doi, Naoki Ikari, Masakazu Yamamoto, Toru Furukawa   +4 more
doaj   +1 more source

Developing a strain‐dependent susceptibility to hepatocellular carcinoma in a murine model based on histopathological evidence and genetic context

Animal Models and Experimental Medicine, EarlyView.
Using F1 (C57BL/6J/Smad4+/− X CC) mice, we found that partial loss of Smad4 promotes liver carcinogenesis in a strain‐dependent manner, highlighting the importance of genetic modifiers in tumor susceptibility. The use of Collaborative Cross mice provides a valuable platform for uncovering genotype‐specific cancer susceptibilities in preclinical ...
Osayd Zohud, Aysar Nashef, Imad Abu‐Elnaaj, Fuad A. Iraqi   +3 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