Results 101 to 110 of about 123,315 (302)

Low Frequency of 185delAG Founder Mutation of BRCA1 Gene in Iranian Breast Cancer Patients [PDF]

AIM: The mutations in two breast cancer susceptibility genes, BRCA1 and BRCA2, are frequently associated with familial breast cancer. In this study, we aimed to investigate the probable founder mutations of BRCA1 and BRCA2 genes in Iranian breast ...
حسینی اصل, سید سعید, حبیبی, لاله, الوندی, احسان, مهدی پور, پروین, صوابی, آرزو, عطری, مرتضی   +5 more
core  

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype [PDF]

, 2013
PubMed ID: 23555276This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
OCCHI, GIANLUCA, Pellegata, NS, Pardi E, Giampaolo Trivellin, Franco Mantero (392960), Cetani, F., Carla Scaroni, Sidarovich V, Carla Scaroni (392961), CIATO, DENIS, Sidarovich, V, Ciato, D., Franco Mantero, Denis Ciato (392953), Regazzo, D, Ferasin, S, Viktoryia Sidarovich, Quattrone, A., Giampaolo Trivellin (106006), Pardi, E, MANTERO, FRANCO, Francesca Boaretto (392952), Bobisse S, Pellegata NS, Denis Ciato, SCARONI, CARLA, Korbonits M, Márta Korbonits (59514), Opocher, G., Sara Bobisse (392954), Regazzo, D., Gianluca Occhi (38330), Daniela Regazzo, Viktoryia Sidarovich (392959), Francesca Boaretto, Daniela Regazzo (392951), REGAZZO, DANIELA, Korbonits, M., Filomena Cetani, Scaroni, C, Ciato, D, Natalia S Pellegata, Mantero, F, Elena Pardi (392957), Pellegata, N.S., Giuseppe Opocher (260071), Giuseppe Opocher, Scaroni, C., Alessandro Quattrone (220189), Cetani F, Bobisse, S, Boaretto, F, Mantero, F., Trivellin G, Quattrone, A, Elena Pardi, Márta Korbonits, Sergio Ferasin, Trivellin, G, Sidarovich, V., Filomena Cetani (392956), BOARETTO, FRANCESCA, Occhi, G., Natalia S. Pellegata (392958), Bobisse, S., Sara Bobisse, Trivellin, G., Boaretto, F., Sergio Ferasin (392955), Gianluca Occhi, Alessandro Quattrone, OPOCHER, GIUSEPPE, FERASIN, SERGIO, Opocher, G, Ferasin, S., Korbonits, M, Pardi, E., Occhi, G, Quattrone A, Cetani, F   +79 more
core   +1 more source

eEF1G Orchestrates Translation to Ensure Meiotic Progression in Transcriptionally Quiescent Spermatocytes

Advanced Science, EarlyView.
eEF1G supports translation elongation of meiotic mRNAs in transcriptionally quiescent leptotene and zygotene spermatocytes. Its depletion in germ cells causes meiotic arrest at the zygotene stage, with defective homologous synapsis and unstable recombination intermediates.
Jianze Xu, Yuwei Hu, Xukun Lu, Yuling Cai, Tongtong Li, Ming Gao, Jinlong Ma, Yuan Gao, Shangming Liu, Zi‐Jiang Chen, Jing Meng, Hongbin Liu, Xiaohua Jiang   +12 more
wiley   +1 more source

Prevalence of MSI‐H/dMMR Colorectal Cancer in Japan: Data From the Clinical Study Group of the University of Osaka‐Colorectal Registry

Annals of Gastroenterological Surgery, EarlyView.
Using a multicenter Japanese colorectal cancer cohort from 25 institutions, we analyzed 1464 patients across all disease stages and tumor locations to determine the prevalence and clinicopathological features of MSI‐H/dMMR colorectal cancer. MSI‐H/dMMR tumors accounted for 9.4% of cases overall, were present in 22% of right‐sided colon cancers, and ...
Yoshihiro Morimoto, Mamoru Uemura, Yoshinori Kagawa, Hidekazu Takahashi, Masayuki Hiraki, Yozo Suzuki, Shinichi Yoshioka, Mitsuyoshi Tei, Shu Okamura, Yukako Mokutani, Atsushi Naito, Shinji Tokuyama, Takamichi Komori, Akinobu Yasuyama, Genta Sawada, Yujiro Fujie, Shinya Yamashita, Naotsugu Haraguchi, Yusuke Matsuura, Chu Matsuda, Yoshinao Chinen, Tatsushi Shingai, Katsuki Danno, Nobuo Tanaka, Kazuya Sakata, Kohei Murata, Yuichiro Doki, Hidetoshi Eguchi   +27 more
wiley   +1 more source

G84E germline mutation in HOXB13 gene is associated with increased prostate cancer risk in Polish men

Polish Journal of Pathology, 2019
We tested the association between HOXB13 G84E (rs138213197) germline mutation and PC risk in Polish men. DNA from 103 consecutive, newly diagnosed patients hospitalised because of PC and DNA from 103 men: volunteers, healthy at the time of the study.
Marta Heise, Piotr Jarzemski, Aneta Bąk, Anna Junkiert-Czarnecka, Maria Pilarska-Deltow, Olga Haus   +5 more
doaj   +1 more source

Germline Mutations and Ancestry in Prostate Cancer

Current Oncology Reports
Abstract Purpose of Review Prostate cancer is the most frequently diagnosed non-cutaneous malignancy of men in the USA; notably, the incidence is higher among men of African, followed by European and Asian ancestry. Germline mutations and, in particular, mutations in DNA damage repair genes (DDRGs) have been implicated ...
Bataba, Eudoxie, Babcock, Kevin, Isensee, Kathryn A., Eldhose, Binil, Kohaar, Indu, Chesnut, Gregory T., Dobi, Albert   +6 more
openaire   +2 more sources

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Lamarck and immunity: Somatic and germline evolution of antibody genes

, 2009
Current work on the mechanism of hypermutation of somatically rearranged antibody variable (V) genes shows that the most likely mechanism involves both direct DNA modification (deamination of cytosines to uracils by AID deaminase) and strand nicking plus
Steele, E.J.
core  

Germline mutation in the TP53 gene in uveal melanoma

, 2018
We performed comprehensive molecular analysis of five cases of metastasizing uveal malignant melanoma (UM) (fresh-frozen samples) with an NGS panel of 73 genes.
Johana Glezgova, Ivana Ticha, Jan Hojny, Jan Ulrych, Pavel Dundr, Katerina Jirsova, Nikola Hajkova, Kristyna Nemejcova   +7 more
core   +1 more source

Severe ADEM‐Like Neuroinflammatory Disease and Cerebrovascular Fragility With Recurrent Pseudoaneurysms and Moyamoya in a Familial Germline CBL Mutation: Expanding the Clinical Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous germline variants in CBL disrupt its function as a negative regulator of the Ras/MAPK pathway, classically predisposing to Juvenile myelomonocytic leukemia (JMML) and moyamoya. We describe two affected siblings carrying a paternally inherited CBL variant (c.1210 T> C, p.
Michal Bar‐Hakim, Anat Abramovich, Sara Via‐Dorembus, Gali Heimer, Bruria Ben‐Zeev, Etai Adam, Assaf A. Barg, Jonathan Roth, Basheer Sheick‐Yousif, Rony Beeri Berkowiz, Michal Feldon, Haim Bassan, Moran Hausman‐Kedem   +12 more
wiley   +1 more source