Results 331 to 340 of about 1,544,422 (378)

AOSNP‐ADAPTR resource level‐based recommendations on practical diagnostic strategies for WHO CNS5 adult‐type diffuse gliomas

Brain Pathology, EarlyView.
ADAPTR recommendations for Adult‐type Diffuse Gliomas in Resource‐restrained settings. Abstract The fifth edition of the WHO classification of CNS Tumors (WHO CNS5) has revised the diagnostic and grading criteria for Adult‐type Diffuse Gliomas (ADGs) by integrating molecular parameters with histologic features.
Vani Santosh, Chitra Sarkar, Shilpa Rao, Ho‐Keung Ng, Junji Shibahara, Maysa Al‐Hussaini, Michael E. Buckland, Sung‐Hye Park, Tarik Tihan, Pieter Wesseling, David N. Louis, Takashi Komori   +11 more
wiley   +1 more source

Surgical outcomes of a congenital nystagmus family with a missense mutation in the FRMD7 gene. [PDF]

Heliyon
Liu J, Wang M, Pang H, Liu F, Bu J.
europepmc   +1 more source

DysRegNet: Patient‐specific and confounder‐aware dysregulated network inference towards precision therapeutics

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Gene regulation is frequently altered in diseases in unique and patient‐specific ways. Hence, personalised strategies have been proposed to infer patient‐specific gene‐regulatory networks. However, existing methods do not scale well because they often require recomputing the entire network per sample.
Johannes Kersting, Olga Lazareva, Zakaria Louadi, Jan Baumbach, David B. Blumenthal, Markus List   +5 more
wiley   +1 more source

A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4. [PDF]

Front Psychiatry
Al-Hassnan Z, AlDosary M, AlHargan A, AlQudairy H, Almass R, Alahmadi KO, AlShahrani S, AlBakheet A, Almuhaizea MA, Taylor RW, Colak D, Kaya N.   +11 more
europepmc   +1 more source

Transcriptional and functional effects of mavacamten in multiple porcine and human models with hypertrophic cardiomyopathy

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Mavacamten (MAVA) is a novel small molecule inhibitor of cardiac myosin, mitigating cardiomyocyte hypercontractility in patients with hypertrophic obstructive cardiomyopathy (HOCM). Despite its recent approval for clinical use, the transcriptional and functional impacts of MAVA remain not well understood.
Elisa Kiselev, Wilson Agyapong, Bjarne Jürgens, Elisa Mohr, Shambhabi Chatterjee, Hannah J. Hunkler, Jawad Salman, Giuseppe Cipriano, Marco Bentele, Junqing Liu, Jonas Specht, Kaja S. Menge, Florian J. G. Waleczek, Jonas A. Haas, Anselm A. Derda, Kristina Sonnenschein, Anika Gietz, Susanne Neumüller, Angelika Pfanne, Oliver Beetz, Michael Pflaum, Bettina Wiegmann, Yiangos Psaras, Christopher Toepfer, Robert Zweigerdt, Ante Radocaj, Theresia Kraft, Andre Zeug, Evgeni Ponimaskin, Wilhelm Korte, Alexander Horke, Arjang Ruhparwar, Maximilian Fuchs, Ke Xiao, Christian Bär, Natalie Weber, Thomas Thum   +36 more
wiley   +1 more source

A de novo missense mutation in PPP2R5D alters dopamine pathways and morphology of iPSC-derived midbrain neurons. [PDF]

Stem Cells
Carter JL, Halmai JANM, Waldo JJ, Vij PA, Anguiano M, Villegas IJ, Du YX, Nolta J, Fink KD.   +8 more
europepmc   +1 more source

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

A DIO2 missense mutation and its impact on fetal response to PRRSV infection. [PDF]

BMC Vet Res
Ko H, Pasternak JA, Mulligan MK, Hamonic G, Ramesh N, MacPhee DJ, Plastow GS, Harding JCS.   +7 more
europepmc   +1 more source

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG‐TOP2 Study

Cancer Science, EarlyView.
In the JCCG‐TOP2 nationwide pediatric cancer genomic profiling study, 204 patients' tumors and peripheral blood from 50 institutions across Japan were successfully analyzed using a dual DNA/RNA panel. A total of 147 (72%) had potentially actionable findings, including diagnostic, prognostic, and therapeutic findings in 111 (54%), 61 (30%), and 64 (31%),
Kayoko Tao, Takako Yoshioka, Miho Kato, Kazuyuki Komatsu, Shinichi Tsujimoto, Kenichi Sakamoto, Kazuki Tanimura, Minako Sugiyama, Masahiro Sekiguchi, Yoshiko Nakano, Yoshihiro Otani, Yasushi Yatabe, Akihiko Yoshida, Hajime Okita, Junko Hirato, Kenichi Kohashi, Yukichi Tanaka, Shinji Kohsaka, Takashi Kubo, Kuniko Sunami, Makoto Hirata, Shuichi Tsutsumi, Hiroyuki Aburatani, Katsuyoshi Koh, Masahiro Hirayama, Shuhei Karakawa, Yukayo Terashita, Hiroyuki Fujisaki, Takeshi Yagi, Akihiro Yoneda, Shinji Mochizuki, Hiroyuki Shichino, Tatsuya Suzuki, Tetsuya Takimoto, Koichi Ichimura, Chitose Ogawa, Kimikazu Matsumoto, Hitoshi Ichikawa, Motohiro Kato   +38 more
wiley   +1 more source

A missense mutation in human INSC causes peripheral neuropathy. [PDF]

EMBO Mol Med
Yeh JY, Chao HC, Hong CL, Hung YC, Tzou FY, Hsiao CT, Li JL, Chen WJ, Chou CT, Tsai YS, Liao YC, Lin YC, Lin S, Huang SY, Kennerson M, Lee YC, Chan CC.   +16 more
europepmc   +1 more source