Results 111 to 120 of about 114,676 (292)

Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-year Follow-up with Successful Sorafenib Treatment

JCRPE
Hereditary forms of medullary thyroid carcinoma (MTC) are rare. Different phenotypes with the same mutation may be due to differences in the timing of rearranged during transfection (RET) activation steps, additional mutations in other regions of the ...
Sirmen Kızılcan Çetin, Zeynep Şıklar, Elif Özsu, Ayşegül Ceran, Koray Ceyhan, Zehra Aycan, Ayça Kırmızı, Handan Dinçaslan, Emel Ünal, Merih Berberoğlu   +9 more
doaj   +1 more source

A minimally invasive assay detects BRCA1 and BRCA2 protein truncations indicative of the presence of a germline mutation.

, 2023
T. J. Byrne
openalex   +2 more sources

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

Sjögren Disease—B Cells at the Brink: From Autoimmunity to Lymphomagenesis and the Rise of Novel B Cell–Targeted Therapies

Arthritis &Rheumatology, EarlyView.
Sjögren disease (SjD) is a common systemic autoimmune disorder characterized by inflammation of the exocrine glands, resulting in dryness. Patients frequently exhibit extraglandular manifestations affecting various organ systems. To date, there are no US Food and Drug Administration (FDA)‐approved disease‐modifying therapies for SjD. In this review, we
Rachael A. Gordon, Sara S. McCoy
wiley   +1 more source

Association between Germline Mutations in the RET Proto-Oncogene and Colorectal Cancer and Polyps [PDF]

, 2019
Guy Rosner
openalex   +1 more source

Decision tree analysis as a preliminary evidence‐based tool for identifying the syndrome of undifferentiated recurrent fever in children compared with hereditary recurrent fevers and periodic fever, aphthosis, pharyngitis and adenitis syndrome

Arthritis &Rheumatology, Accepted Article.
Objective To develop evidence‐based criteria to classify SURF patients. Methods 112 SURF patients followed in a single tertiary referral center were analyzed. Patients with genetically confirmed hereditary recurrent fever (HRF) or with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome already analyzed for the Eurofever classification
Riccardo Papa, Francesca Bovis, Silvia Federici, Serena Palmeri, Marta Bustaffa, Giada Recchi, Roberta Bertelli, Roberta Caorsi, Stefano Volpi, Sabrina Fuehner, Veysel Cam, Anna Kozáková, Šárka Horáčková Fingerhutová, Antonella Insalaco, Dirk Foell, Seza Ozen, Isabella Ceccherini, Marco Gattorno, on behalf of the Eurofever study group for the Classification criteria of recurrent fevers and PerSAID project, Michael Hofer, Federica Vanoni, Jordi Anton, Juan Ignacio Arostegui, Karyl S. Barron, Eldad Ben‐Chetrit, Paul Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenke, Raphaela Goldbach‐Mansky, Ahmet Gul, Veronique Hentgen, Hal M. Hoffman, Tilmann Kallinich, Isabelle Koné‐Paut, Jasmin Kuemmerle‐Deschner, Helen J. Lachmann, Ronald M. Laxer, Avi Livneh, Laura Obici, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Natasa Toplak, Isabelle Touitou, Yosef Uziel, Marielle van Gijn, Daniel L. Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto   +54 more
wiley   +1 more source

Germline Mutation [PDF]

, 2020
openaire   +1 more source

Germline mutations in RCC [PDF]

Nature Reviews Urology, 2018
openaire   +2 more sources

Why we age

Biological Reviews, EarlyView.
ABSTRACT Three categories of explanations exist for why we age: mechanistic theories, which omit reference to evolutionary forces; weakening force of selection theories, which posit that barriers exist that prevent evolutionary forces from optimising fitness in ageing; and optimisation theories, which posit that evolutionary forces actually select for ...
Michael S. Ringel
wiley   +1 more source

Supplemental Figure 1 from Germline Mutations in 12 Genes and Risk of Ovarian Cancer in Three Population-Based Cohorts

, 2023
Joanne Kotsopoulos, Cassandra A. Hathaway, Steven A. Narod, Lauren R. Teras, Alpa V. Patel, Chunling Hu, Siddhartha Yadav, Fergus J. Couch, Shelley S. Tworoger   +8 more
openalex   +1 more source