Results 241 to 250 of about 688,262 (355)

Corrigendum to "Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance" by Jung et al. (J Korean Neurosurg Soc 68 : 338-349, 2025). [PDF]

J Korean Neurosurg Soc
europepmc   +1 more source

Identification of functional murine mitochondrial formyl peptides and their effects on myeloid‐derived suppressor cell generation

FEBS Open Bio, EarlyView.
We first identified functional murine mitochondrial N‐formyl peptides (MT‐FPs) and investigated their effects on the in vitro myeloid‐derived suppressor cell (MDSC) generation from bone marrow cells. We demonstrated that MT‐FPs acted directly on bone marrow cells to promote MDSC generation and modulated the polymorphonuclear (PMN)‐MDSC/monocyte (M ...
Miyako Ozawa, Saori Kagoshima, Akira Yamada   +2 more
wiley   +1 more source

Applicability of mitotic figure counting by deep learning: a development and pan‐cancer validation study

FEBS Open Bio, EarlyView.
In this study, we developed a deep learning method for mitotic figure counting in H&E‐stained whole‐slide images and evaluated its prognostic impact in 13 external validation cohorts from seven different cancer types. Patients with more mitotic figures per mm2 had significantly worse patient outcome in all the studied cancer types except colorectal ...
Joakim Kalsnes, Maria X. Isaksen, Frida Julbø, Manohar Pradhan, Andreas Kleppe, Sepp De Raedt, Ole‐Johan Skrede, Turid Torheim, John Arne Nesheim, Hans Martin Mohn, Hanne A. Askautrud, Karolina Cyll, Wanja Kildal, Emma Rewcastle, Melinda Lillesand, Vebjørn Kvikstad, Emiel Janssen, Robert Jones, Odd Terje Brustugun, Bjørn Brennhovd, Erik Skaaheim Haug, Lill‐Tove Rasmussen Busund, Elin Richardsen, Sigve Andersen, Tom Dønnem, Kristina Lindemann, Gunnar Kristensen, Neil A. Shepherd, Marco Novelli, Knut Liestøl, David Kerr, Håvard E. Danielsen, Tarjei S. Hveem   +32 more
wiley   +1 more source

Clinical presentation and molecular genetics of Iranian patients with Niemann-pick type C disease and report of 6 NPC1 gene novel variants: A case series

Hedyeh Saneifard, Marjan Shakiba, Mohammadreza Alaei, Asieh Mosallanejad, Shirin Ghanefard, Mehrdad Yasaei, Kimia Karimi Toudeshki   +6 more
openalex   +1 more source

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

FEBS Open Bio, EarlyView.
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui, Taobo Hu, Thomson Christian Husein, Wai Hei Shek, Bingrong Chen, Depeng Wang, Shu Wang, Weichuan Yu, Xiaodan Fan, Mengping Long, Toyotaka Ishibashi   +10 more
wiley   +1 more source

Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Joanne Ngeow, Jianbang Chiang, Esteban Astiazarán-Symonds, Judith Balmañà, Ilana Cass, Felix KF Kommoss, William D Foulkes, Paul A James, Arielle Katcher, Susan Klugman, Alicia A. Livinski, Julie S Mak, Nicoleta Voian, Myra Wick, Marc Tischkowitz, Tuya Pal, Douglas R. Stewart, Helen Hanson, ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net   +18 more
openalex   +2 more sources

[The genetics of obesity - pathogenetic, clinical and diagnostic aspects].

, 2019
A. Barczyk, Anna Kutkowska‐Kaźmierczak, Jennifer Castañeda, Ewa Obersztyn   +3 more
openalex   +2 more sources

Development of human monoclonal antibodies against TARM1 by yeast display

FEBS Open Bio, EarlyView.
Human monoclonal antibodies against TARM1 are generated by yeast display‐guided selection. These antibodies bind to soluble and cell‐surface forms of TARM1. Also, these antibodies exhibit agonistic activity in the NFAT‐GFP reporter assay, indicating that TARM1 signaling can be functionally modulated by antibodies and suggesting TARM1 as a potential ...
Rikio Yabe, Mayumi Saeki, Masaaki Hashiguchi, Sayaka Ono, Kazuhisa Aoki, Hidetaka Tanno   +5 more
wiley   +1 more source

Minimum Guidelines for the Delivery of Clinical Genetics Services

, 1993
Weaver, David D., Laxova, Renata, Cohen, Felissa, Theobald, Michelle, Krueger, Shirley, Lubinsky, Mark S., King, Richard A., Baker, Diane   +7 more
core  

Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing. [PDF]

J Genet Couns
Hansen A, Luca S, Moran O, Babul-Hirji R, Coe TB, Wilk K, Assamad D, Fooks K, Venkataramanan V, Shickh S, Yan J, Wu V, Badalato L, Balci TB, Ladouceur VB, Chad L, Chisholm C, Gillespie MK, Huang L, Jarinova O, Lau L, Lee W, Mackley MP, Marshall CR, Mendoza-Londono R, Morel CF, Richer J, Sawyer S, Stavropoulos DJ, Szuto A, Tarnopolsky M, Villani A, Zahavich L, Somerville MJ, Boycott KM, Ungar WJ, Hayeems RZ.   +36 more
europepmc   +1 more source