Results 161 to 170 of about 277,505 (282)

The Testicular Cancer Consortium (TECAC): Filling Knowledge Gaps in the Genetic Etiology of Testicular Germ Cell Tumors

Andrology, EarlyView.
ABSTRACT Background The Testicular Cancer Consortium (TECAC) was established in 2012 and is comprised of researchers from over 25 centers in Europe and North America. TECAC's overarching goal is to investigate the genetic susceptibility of testicular germ cell tumors (TGCT) to better understand their biology, impact prevention strategies, and inform ...
Peter A. Kanetsky, Kristian Almstrup, Svetlana Cherlin, Victoria K. Cortessis, Alberto Ferlin, Jourik A. Gietema, Anna González‐Neira, Tom Grotmol, Robert J. Hamilton, Trine B. Haugen, Lambertus A. Kiemeney, Jung Kim, Csilla Krausz, Davor Lessel, Ragnhild A. Lothe, Kevin T. Nead, Jérémie Nsengimana, Jenny N. Poynter, Ewa Rajpert‐DeMeyts, Lorenzo Richiardi, Stephen M. Schwartz, Rolf I. Skotheim, Douglas R. Stewart, Clare Turnbull, Fredrik Wiklund, Tongzhang Zheng, Katherine L. Nathanson, Katherine A. McGlynn, for the Testicular Cancer Consortium   +28 more
wiley   +1 more source

Global COI meta-analysis reveals ocean-basin genetic structure in Sphyrna lewini. [PDF]

PLoS One
Smith S, Black C.
europepmc   +1 more source

Tubulointerstitial nephritis and uveitis syndrome in children: What to keep an eye on

Acta Ophthalmologica, EarlyView.
Abstract Purpose The purpose of this study was to determine the disease course in patients with tubulointerstitial nephritis and uveitis (TINU) syndrome, focusing on long‐term outcome and the incidence of complications such as chronic kidney disease (CKD).
Jytte Hendrikse, Anne Sina Paula Simon, Viera Kalinina Ayuso, Joke Helena de Boer, Gerrit van den Berg   +4 more
wiley   +1 more source

The genome sequence of the Lesser Horseshoe Bat, <i>Rhinolophus hipposideros</i> (Bechstein, 1800) (Chiroptera: Rhinolophidae). [PDF]

Wellcome Open Res
Alvarez van Tussenbroek I, Vernes SC, Nicolaou H, Teeling EC, Mai M, Pieri M, Bat1K Consortium, Wellcome Sanger Institute Tree of Life Management, Samples and Laboratory team, Wellcome Sanger Institute Scientific Operations: Sequencing Operations, Wellcome Sanger Institute Tree of Life Core Informatics team, Tree of Life Core Informatics collective, Darwin Tree of Life Consortium.   +12 more
europepmc   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

First insight into genetic diversity of two sympatric marten species between the Alps and Adriatic islands. [PDF]

PLoS One
Buzan E, Duniš L, Komel T, Pokorny B, Fernandes CR, Marčić Z, Sindičić M.   +6 more
europepmc   +1 more source

Molecular characterization of the prevalent soil-transmitted helminths in Narathiwat Province, southern Thailand. [PDF]

PLoS One
Buathong S, Suwandittakul N, Chesor M, Chornchoem P, Mungthin M.   +4 more
europepmc   +1 more source

Decoding immune‐driven erythroid failure in pure red cell aplasia

British Journal of Haematology, EarlyView.
Pure red cell aplasia (PRCA) is increasingly recognised as a T‐cell‐mediated bone marrow failure syndrome, yet its immunogenetic drivers remain poorly defined. In their paper, Yamashita et al. integrate human leucocyte antigen (HLA) typing, T‐cell receptor repertoire analysis and mutational profiling to reveal enriched HLA alleles, signal transducer ...
Federico Spataro, Vanessa Desantis, Antonio Giovanni Solimando   +2 more
wiley   +1 more source

Identification of de novo variants from parent-proband duos via long-read sequencing. [PDF]

Am J Hum Genet
Boukas L, Délot EC, Pitsava G, Lambert C, Fanslow C, Baybayan P, Belhadj S, Losic B, Harting J, Bluske K, LoTempio J, Al-Kouatly HB, Karam R, Rowell WJ, Xiao C, Vilain E, Berger SI.   +16 more
europepmc   +1 more source

Immunological features of acquired pure red cell aplasia: Specific human leucocyte antigen alleles, signal transducer and activator of transcription 3 mutations and a unique T‐cell receptor beta motif

British Journal of Haematology, EarlyView.
Summary T‐cell abnormalities have been implicated in the pathogenesis of acquired pure red cell aplasia (PRCA), particularly in its major subtypes such as idiopathic PRCA, thymoma‐associated PRCA and large granular lymphocytic leukaemia (LGLL)–associated PRCA, and the precise details remain unclear.
Naruaki Yamashita, Toru Kawakami, Shuji Matsuzawa, Shotaro Miyairi, Masae Maruyama, Fumihiro Kawakami, Shunsuke Kojima, Ryu Yanagisawa, Yumiko Higuchi, Hideki Makishima, Hideyuki Nakazawa, Fumihiro Ishida   +11 more
wiley   +1 more source