Results 251 to 260 of about 247,558 (284)

Identifying potential genetic biomarkers for sperm dysfunction through whole-genome sequencing. [PDF]

Sci Rep
Khan MR, Shah AA, Al Smadi MA, Ludwig N, Fischer U, Abdul-Khaliq H, Meese E, Abu-Halima M.   +7 more
europepmc   +1 more source

Iron overload in hereditary spherocytosis: Are genetic factors the cause?

British Journal of Haematology, EarlyView.
Summary Non‐transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next‐generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association ...
Lucie Donaty, Muriel Giansily‐Blaizot, Ivan Bertchansky, Séverine Cunat, Vincent Azoury, Perrine Mahe, Patricia Aguilar Martinez   +6 more
wiley   +1 more source

Whole genome sequence analysis of <i>Helicobacter pylori</i> isolates reveals incomplete characterization of antimicrobial resistance mechanisms. [PDF]

iScience
Vieni C, Rothstein T, Johnson S, Schuetz AN, Norgan A, Patel R.   +5 more
europepmc   +1 more source

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

Revisiting p53 Immunohistochemical Staining and Its Prognostic Implications in Advanced EGFR-Mutated Lung Adenocarcinoma. [PDF]

Cancers (Basel)
Kuan FC, Chang SF, Yang YR, Wu YY, Chen FF, Lee KF, Chi CL, Lin MH, Shi CS.   +8 more
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

Landscape Analysis of <i>COL6A1</i>, <i>COL6A2</i>, and <i>COL6A3</i> Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report. [PDF]

Biomolecules
Fortunato F, Fiocco L, Margutti A, Neri M, D'Amico A, Bertini E, Ricci E, Mercuri EM, Pane M, Massa R, Greco G, Berardinelli AL, Cereda C, Pini A, Merlini L, Fusco C, Rodolico C, Messina S, Fiorillo C, Bruno C, Pedemonte M, Traverso M, Moroni I, Maggi L, Gibertini S, Pegoraro E, Picillo E, Politano L, Scutifero M, Vercellino F, Massaro F, Filosto M, Gasparini P, Ricci F, Mongini TE, Selvatici R, Ferlini A, Gualandi F.   +37 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

Analysis of genes involved in immune response in children with HLH - case series. [PDF]

Pediatr Rheumatol Online J
Gowin E, Szaflarski W, Januszkiewicz-Lewandowska D.   +2 more
europepmc   +1 more source