Results 181 to 190 of about 81,640 (291)

Blurring the Lines: Co‐Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient

open access: yesClinical Genetics, EarlyView.
We report a unique case of early‐onset colorectal cancer with both a germline MSH6 variant and constitutional mosaic MLH1 epimutation, revealing a possible digenic mechanism underlying Lynch syndrome. This case highlights the diagnostic complexity of mismatch repair deficiency and the value of integrative tumor–germline molecular profiling.
Aasem Abu Shtaya   +7 more
wiley   +1 more source

Fertility-sparing management of perivascular epithelioid cell tumors: A case report and literature review. [PDF]

open access: yesCase Rep Womens Health
Jore L   +5 more
europepmc   +1 more source

Mapping the Prevalence of Lynch Syndrome in the Ceará—Northeast of Brazil

open access: yesClinical Genetics, EarlyView.
Distribution of pathogenic variants associated with Lynch syndrome across Brazil, with a particular emphasis on the state of Ceará. The illustration highlights the most frequently reported MMR genetic variants in Brazil and provides a magnified view of Ceará, where three novel variants were identified in the APC, SMAD4, and MSH6 genes within specific ...
Maria Claudia dos Santos Luciano   +8 more
wiley   +1 more source

Caesarean scar endometriosis involving the uterine wall. [PDF]

open access: yesFacts Views Vis Obgyn
AlMaamari BA   +6 more
europepmc   +1 more source

RNF219 RING Finger Domain Mutants Drive Phase Separation to Encapsulate CCR4‐NOT and Promote Cell Proliferation

open access: yesCell Proliferation, EarlyView.
Mutations in the RING finger domain (C3HC4) of RNF219 promote the formation of RNF219 condensates, which are able to encapsulate the CCR4‐NOT complex. These RNF219Mut‐CCR4‐NOT condensates reduce the deacetylation activity of the CCR4‐NOT complex and induce cell proliferation.
Chen Chen   +4 more
wiley   +1 more source

Establishment and Validation of a C57BL/6J Mouse Model for Melasma

open access: yesCell Proliferation, EarlyView.
A melasma‐like mouse model was established in C57BL/6J mice using a combination of UVB irradiation, progesterone administration, and chronic psychological stress. This model replicates key clinical features and biomarker alterations observed in human melasma. Importantly, it is fundamentally distinct from UV‐induced post‐inflammatory hyperpigmentation (
Wenzhu Wang   +9 more
wiley   +1 more source

Women with first recurrence of endometrial cancer: who are they? An analysis of real-world data of the JAGO/NOGGO. [PDF]

open access: yesBMC Cancer
Proppe L   +9 more
europepmc   +1 more source

Liquid–Liquid Phase Separation in Major Hallmarks of Cancer

open access: yesCell Proliferation, EarlyView.
Aberrant condensates formed through phase separation are involved in the dysregulation of various critical cellular processes, including genome stability, transcriptional regulation and signal transduction, thereby promoting malignant transformation and the acquisition of multiple cancer hallmarks.
Chen‐chen Xie   +10 more
wiley   +1 more source

Lipidomic profiling of endometrial cancer using desorption electrospray ionization mass spectrometry imaging. [PDF]

open access: yesProc Natl Acad Sci U S A
Paraskevaidi M   +14 more
europepmc   +1 more source

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