Results 241 to 250 of about 93,286 (337)

Significance of Exogenous Estradiol on Plasma Cortisol and Salivary Cortisol During Adrenocorticotropic Hormone Stimulation in Women With Pituitary Insufficiency

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Objective Oral estrogens increase the levels of cortisol binding globulin (CBG) potentially affecting test results for adrenal insufficiency. The objective was to evaluate the influence of oral and transdermal estradiol on total plasma (p) and salivary cortisol in hypogonadal women with secondary adrenal insufficiency or at risk of developing ...
Laura S. Aagaard   +4 more
wiley   +1 more source

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer‐Associated Founder Pathogenic Variant in the French‐Canadian Population of Quebec, Canada

open access: yesClinical Genetics, EarlyView.
Using haplotype analysis, we characterized PMS2 c.2117del, identified in 22 families, as a founder variant in the French‐Canadian population of Quebec. It is the most frequent cancer‐associated founder variant in French‐Canadians, with over‐representation in five regions of Quebec. The variant contributed to colorectal and endometrial cancer incidence.
Anne‐Laure Chong   +15 more
wiley   +1 more source

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

The protective role of γδ T cells in endometrial cancer. [PDF]

open access: yesCancer Immunol Immunother
Mysona DP   +11 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

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

Proteomic analysis uncovers biological diversity in molecularly defined endometrial carcinomas. [PDF]

open access: yesNeoplasia
Cochrane DR   +23 more
europepmc   +1 more source

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