Results 171 to 180 of about 468,507 (253)

Case Report: UMOD gene mutation and phenotypic overlap with REN in autosomal dominant tubulointerstitial kidney disease. [PDF]

Front Genet
Xu J, Chen E, Shi W, He W, Yu D, Li X.
europepmc   +1 more source

A highly abundant circular RNA from the RMST locus plays a role in posterior fossa ependymoma pathogenesis

Brain Pathology, EarlyView.
circRMST (hsa_circ_0099634) is by far the most abundant isoform from the RMST locus. It is highly expressed in cancer cells throughout ependymoma patient samples and is located in the cytoplasm. circRMST knockdown causes cell cycle arrest and induces differentiation, and it is a marker for poor prognosis. The figure is made using BioRender.
Ulvi Ahmadov, Charlotte W. Udengaard, Stine M. Vissing, Silke D. Nielsen, Kim‐Gwendolyn Dietrich, Benedicte Parm Ulhøi, Lasse S. Kristensen   +6 more
wiley   +1 more source

A Case of 17β-Hydroxysteroid Dehydrogenase Type 10 (HSD10) Disease Caused by a Novel Variant Presenting With Rapidly Progressive Cardiomyopathy Triggered by Viral Infection. [PDF]

Cureus
Kubo R, Iwamoto Y, Ajihara S, Murayama K, Ohtake A, Fujinuma S, Sugiyama K, Ishido H, Korematsu S, Masutani S.   +9 more
europepmc   +1 more source

Comprehensive Analysis of Type 2 Innate Lymphoid Cell (ILC2) Heterogeneity and Identification of CD81 as a Marker for Pathogenic IL‐13+ ILC2s in Atopic Dermatitis Skin

Allergy, EarlyView.
Mai Nishimura, Yasutomo Imai, Yoshiaki Matsushima, Keiichi Yamanaka   +3 more
wiley   +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

Surveillance of a <i>PLOD</i> gene variant linked to fragile foal syndrome in Silesian horses in Poland: implications for genetic monitoring and breeding strategies. [PDF]

J Vet Res
Stefaniuk-Szmukier M, Błaszczak A, Długosz B, Musiał A, Ropka-Molik K.   +4 more
europepmc   +1 more source

Genotype–Phenotype Correlations of Li–Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort

Cancer Science, EarlyView.
This study investigates genotype–phenotype correlations in Japanese families with germline TP53 pathogenic variants, collected through a nationwide prospective cancer surveillance study (JCCG LFS‐20). Among 41 families analyzed, 36 met criteria for Li–Fraumeni syndrome (LFS), and 5 were classified as attenuated LFS.
Fumito Yamazaki, Yoshiko Nakano, Masashi Sanada, Hiroki Kurahashi, Shunsuke Miyai, Arisa Ueki, Yuko Watanabe, Daisuke Hasegawa, Shuhei Karakawa, Toshifumi Ozaki, Akira Hirasawa, Akiko M. Saito, Eisuke Inoue, Motohiro Kato, Hiroyoshi Hattori   +14 more
wiley   +1 more source

Risks and Implications of Multiple Actionable Pathogenic Germline Variants Discovered by Panel-Based Cancer Predisposition Testing. [PDF]

JCO Precis Oncol
Neumann C, Dedousis D, Hall MJ.
europepmc   +1 more source

Expression of the CXCR4 S338X Variant Improves Anti‐Leukemia Efficacy of Anti‐CD19 CAR‐T Cells

Cancer Science, EarlyView.
Under normal conditions, CXCL12 stimulation induces CXCR4 degradation. In contrast, CAR19‐T cells expressing the CXCR4 S338X variant maintain receptor stability and sustain ERK and AKT signaling, which supports T‐cell effector function, migration, and survival. Therefore, the enhanced anti‐leukemic activity is conferred by CXCR4 S338X expression in CAR‐
Yushu Mao, Xiaodan Wang, Chun‐Hui Jin, Zhifeng Wei, Qinghao Ding, Ke‐Ke Zhang, Bo‐Wen Dong, Kai‐Wen Zheng, Yufei Hou, Tao Zhang, Wen‐Jie Zhao, Zheng Hu, Yong‐Guang Yang   +12 more
wiley   +1 more source

Dupilumab treatment for Chinese Nagashima-type palmoplantar keratoderma associated with atopic dermatitis: a case report. [PDF]

Front Immunol
Hua C, Cheng H, Chen X.
europepmc   +1 more source