Results 191 to 200 of about 116,502 (262)

A Recurrent Tympanicum Paraganglioma With a SDHD Pathogenic Variant: Fourth Reported Case

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Objective The aim of this study is to describe a clinical case of a SDHD germline mutation associated tympanic paraganglioma (TPGL). Patients A female patient seen in the otology clinic at a tertiary care center with a diagnosis of tympanic paraganglioma and significant family history of head and neck paragangliomas.
Alex Z. Graboyes, Kevin Wong, Yonghong Huan, Jason A. Brant   +3 more
wiley   +1 more source

Lifespan-extending downregulation of insulin signalling reduces germline mutation load

Duxbury EML, Godden AM, de Coriolis J, Carlsson H, Immler S, Maklakov AA.   +5 more
europepmc   +1 more source

A rare germline mutation reverses the suppressive effect of <i>GPC5</i> thereby promoting lung adenocarcinoma development and tumorigenesis. [PDF]

Front Genet
Zheng Z, Zhao L, Zhao S, Wu Z, Wu N.
europepmc   +1 more source

RNAi‐based functional genomics tools for the beet leafhopper using microinjection and nanoparticle‐based topical spray

Insect Science, EarlyView.
• First demonstration of functional RNAi in the beet leafhopper, Neoaliturus tenellus, using both dsRNA microinjection and star polycation nanoparticle‐mediated topical spray delivery.•Microinjection achieved over 90% knockdown of Gus and Pum3, revealing gene‐specific fitness effects on survival and fecundity in beet leafhopper.•Nanoparticle‐mediated ...
Jinlong Han, Maria Paula Mejia Alonzo, Meihua Cui, Katherine O. Puffer, Anna M. Wolff, Garret M. Miyake, Oliver T. Neher, Vamsi J. Nalam, Punya Nachappa   +8 more
wiley   +1 more source

An Unexpected Finding of a PTPN11 Germline Mutation in a Patient With a Melanocytic Lesion With a Somatic MAP2K1 Mutation. Coincidence or Not? [PDF]

J Cutan Pathol
van der Woude S, Klein Wassink-Ruiter JS, Kluiver J, de Jonge M, Diercks GFH.   +4 more
europepmc   +1 more source

Systemic Therapy Management Strategies for Early‐Stage Breast Cancer in Australia

Asia-Pacific Journal of Clinical Oncology, EarlyView.
Advances in systemic therapy for early‐stage breast cancer in Australia highlight genomic‐guided decisions, subtype‐specific strategies, and emerging targeted and immunotherapies, shaping personalized and de‐escalated treatment approaches. ABSTRACT Breast cancer is the most common cancer among Australian women, with early‐stage disease (Stages I, II ...
Nicholas Zdenkowski, Rachel Dear, Sanjeev Kumar, Hilary Martin, Dhanusha Sabanathan, Stephen J. Luen, Belinda Yeo   +6 more
wiley   +1 more source

Germline mutation rate predicts cancer mortality across 37 vertebrate species. [PDF]

Evol Med Public Health
Kapsetaki SE, Compton ZT, Mellon W, Vincze O, Giraudeau M, Harrison TM, Abegglen LM, Boddy AM, Maley CC, Schiffman JD.   +9 more
europepmc   +1 more source

Megakaryocyte centrosomal and Golgi structural perturbations in patients with primary myelofibrosis and with <i>RUNX1</i> germline mutation. [PDF]

Leuk Lymphoma
Obiorah IE, Kundu D, Adekunle F, Pramoonjago P, Calvo KR, Liu P, Goldfarb A.   +6 more
europepmc   +1 more source

Broader Familial Cancer Risk in Relatives of Testicular Cancer Patients: Insights From Two Mediterranean Populations

Andrology, EarlyView.
ABSTRACT Background Familial clustering of testicular germ cell tumour (TGCT) is well‐established, whereas the risk of non‐testicular cancer among relatives remains inconsistent across studies. Objective To evaluate the overall and site‐specific cancer risk among first‐degree relatives and grandparents of TGCT patients compared to cancer‐free controls.
Csilla Krausz, Chiara Abrardo, Viktoria Rosta, Daniel Moreno‐Mendoza, Luca Bressan, Matteo Vannucci, Rebecca Passerotti, Arianna Meacci, Ginevra Farnetani, Viola Bonini, Giovanni Corona, Maria Grazia Fino, Eduard Ruiz‐Castañé, Antoni Riera‐Escamilla   +13 more
wiley   +1 more source

Multiple drug resistance caused by germline mutation of exon 27 of BRCA2 gene in triple-negative breast cancer: a case report and literature review. [PDF]

Front Oncol
Li Y, Xu G, Zhang L, Zhao K, Zhao Y, Han D.   +5 more
europepmc   +1 more source