Results 81 to 90 of about 5,456,377 (265)

Syndromic approach in assessing the surgical pathology of the cervical spine

Гений oртопедии, 2018
Object of study The existing variety of cervical spine pathologies resulted in a huge number of nosologic classifications and complicates their interpretation.
Alexander V. Burtsev, Alexander V. Gubin, Sergey O. Ryabykh, Alexander O. Kotel'nikov, Olga M. Pavlova   +4 more
doaj   +1 more source

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

Molecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain, Yann Le Page, Frédéric Percevault, Emmanuelle Becker, Luc Negroni, Almudena Fernandez, Marta Cantero, Diego Muñoz‐Santos, Lluís Montoliu, Cyrille Garnier, Michael Primig   +10 more
wiley   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 more
wiley   +1 more source

Causal Relationship Between Methotrexate and Chronic Obstructive Pulmonary Disease: A Study Based on Network Toxicology and Mendelian Randomization

International Journal of COPD
Ying-Xing Xiang,1– 3 Fang-Shu Zou,1– 3 Mei-Feng Shi,1– 3 Qiang Xu1– 3 1State Key Laboratory of Traditional Chinese Medicine Syndrome, The First Clinical Medical College of Guangzhou University of Chinese Medicine, Guangzhou, People’s Republic of China ...
Xiang YX, Zou FS, Shi MF, Xu Q
doaj  

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Molecular Autism
Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3.
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach   +12 more
doaj   +1 more source

GAPO Syndrome – Diagnosis of a Rare Case Report and Review

Journal of Indian Academy of Oral Medicine and Radiology
GAPO syndrome is an unusual genetic disorder with an autosomal recessive trait inheritance. The syndrome is caused due a genetic defect or alterations in the ANTXR1/TEM8 gene.
Sindhu Vijayakumar, G. V. Murali Gopika Manoharan   +1 more
doaj   +1 more source

Circulating microRNA signatures of cachexia and cancer in Canis familiaris as a comparative oncology model for human disease

Molecular Oncology, EarlyView.
Circulating microRNAs as biomarkers of cachexia and sex‐specific cancer in senior dogs. In 25 client‐owned dogs, four circulating miRNAs (miR‐15a, miR‐15b, miR‐16, miR‐140) were downregulated in cachexia, with miR‐16 the strongest individual biomarker (AUC = 0.899).
Soon‐Seok Park, Kyongman An, Gyeonghwa Kim, Soo‐Nyun Choi, Hong‐Ki Lee, Keun Hur, Kyu‐Shik Jeong   +6 more
wiley   +1 more source

Targeting transcription factors associated with hemoglobinopathies: Lessons from successful interventions and implications for cancer

Molecular Oncology, EarlyView.
This review summarizes the transcription factors, repressive chromatin‐modifying complexes, and epigenetic mechanisms that control fetal hemoglobin repression. Notably, many regulators of γ‐globin silencing also function in transcriptional and epigenetic networks that drive cancer, highlighting opportunities to translate advances in hemoglobinopathy ...
Meigen Yu, Puspa Das, Xing Zhang, Xiaodong Cheng   +3 more
wiley   +1 more source

The feasibility of pathogenetic therapy for chronic viral hepatitis C in adult HIV-infected patients

Вестник медицинского института «Реавиз»: Реабилитация, врач и здоровье
In the third decade of the XXI century, HIV infection and viral hepatitis C remain urgent problems of modern medicine. Only in the Russian Federation in 2023, more than 1.6 million HIV-infected people and about 2 million patients with chronic viral ...
E. B. Bun'kova, N. A. Bileva, M. I. Sinel'nikov, A. E. Bilev   +3 more
doaj   +1 more source

PANoptosis in the pathogenesis of myelodysplastic syndromes

Molecular Oncology, EarlyView.
PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla, Jyoti Lamichhane, Cameron Lewis, Peter Breslin, Jiwang Zhang   +4 more
wiley   +1 more source