Results 191 to 200 of about 1,170,509 (350)

Clinical Diagnosis through Whole-Genome Sequencing [PDF]

, 2019
Anna Hurst, Melissa A. Wilk, James Holt, Elaine Lyon, David Bick   +4 more
openalex   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Whole Genome Sequencing in Cancer Clinics

EBioMedicine, 2015
Ken Chen, Funda Meric-Bernstam
doaj   +1 more source

IMPLEMENTATION OF WHOLE GENOME SEQUENCING FOR BACTERIA GENOTYPING [PDF]

Postępy Mikrobiologii, 2018
Daria Artyszuk, Tomasz Wołkowicz
doaj   +1 more source

Faculty Opinions recommendation of Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

, 2020
Guy A. Rouleau
openalex   +2 more sources

Down‐regulation of Shh in the hair follicles of mice during chemotherapy‐induced hair loss is mediated by the JAK/STAT1 signaling pathway

FEBS Open Bio, EarlyView.
We found that during chemotherapy‐induced alopecia (CIA), Sonic hedgehog (Shh) expression significantly decreased in hair follicle Shh+ cells, whereas the Janus‐activated kinase/signal transducer and activator of transcription 1 (JAK/STAT1) signaling pathway was markedly activated.
Ruifang Fan, Jingling Huang, Xiang Lin, Tingjiao Lan, Yuli Tang, Ling Sun, Guixuan Zhou   +6 more
wiley   +1 more source

Practice Recommendations for Genetic Testing of Ataxias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +1 more source

Rapid SARS-CoV-2 whole-genome sequencing and analysis for informed public health decision-making in the Netherlands

Nature Network Boston, 2020
B. O. Oude Munnink, David F. Nieuwenhuijse, M. Stein, Á. O'toole, M. Haverkate, M. Mollers, Sandra K. Kamga, C. Schapendonk, Mark R. Pronk, P. Lexmond, A. van der Linden, T. Bestebroer, Irina V. Chestakova, Ronald J Overmars, S. van Nieuwkoop, R. Molenkamp, A. A. van der Eijk, C. Geurtsvankessel, H. Vennema, A. Meijer, A. Rambaut, J. V. van Dissel, R. Sikkema, A. Timen, M. Koopmans, G. J. A. P. M. Janke Jan Marjolein Wouter Robbert G. Oudehuis Schinkel Kluytmans Kluytmans-van den Berg, G. J. A. P. M. Oudehuis, J. Schinkel, J. Kluytmans, M. F. Kluytmans-van den Bergh, W. van den Bijllaardt, Robbert G. Berntvelsen, M. V. van Rijen, Peter M. Schneeberger, S. Pas, B. Diederen, A. Bergmans, P. V. D. van der Eijk, J. Verweij, A. Buiting, Roel Streefkerk, A. Aldenkamp, P. de Man, J. G. M. Koelemal, D. Ong, S. Paltansing, N. Veassen, Jacqueline Sleven, L. Bakker, Heinrich Brockhoff, A. Rietveld, F. Slijkerman Megelink, J. C. Cohen Stuart, Anne de Vries, W. A. van der Reijden, A. Ros, E. Lodder, Ellen Verspui-van der Eijk, Inge Huijskens, E. M. Kraan, M. V. D. van der Linden, S. Debast, N. A. Naiemi, A. Kroes, M. Damen, S. Dinant, Sybren Lekkerkerk, O. Pontesilli, Pieter M. Smit, C. van Tienen, P. Godschalk, J. van Pelt, A. Ott, Charlie van der Weijden, H. Wertheim, J. Rahamat-Langendoen, J. Reimerink, R. Bodewes, E. Duizer, B. van der Veer, C. Reusken, S. Lutgens, Peter M. Schneeberger, M. Hermans, P. Wever, A. Leenders, Henriëtte L. G. ter Waarbeek, C. Hoebe   +87 more
semanticscholar   +1 more source

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano, Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Takahiro Hobara, Risa Nagatomo, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Chika Matsuoka, Toru Yamashita, Takashi Kimura, Ayako Miyazaki, Chinatsu Kinjo, Kenji Yokochi, Nanami Yamanaka, Nozomu Matsuda, Tomoki Suichi, Yoshiyuki Hanaoka, Haruka Kojima, Kenichi Todo, Hiroyuki Ishiura, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +27 more
wiley   +1 more source