Stem Cell ResearchWe report the generation of a genetically corrected induced pluripotent stem cell (iPSC) line, BIHi261-A-1, derived from the patient-specific iPSC line BIHi261-A carrying a homozygous truncating mutation in the POMC gene (POMC:W84X). This mutation causes
Katarzyna A. Ludwik +6 more
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Shelterin genes, germ line mutations and chronic lymphocytic leukemia
Translational Cancer Research, 2017 Telomeres are distinctive DNA-protein structures that cap the ends of linear chromosomes; they are essential to maintain chromosomal integrity and genome stability. Telomeres are composed by tandem repeats of the non-codificant DNA sequence TTAGGG bound by the shelterin complex. It contains six core proteins: TERF1, TERF2, POT1, ACD, TERF2IP and TINF2,
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Advanced Science, EarlyView.Regulatory T cells (Tregs) suppress antitumor immunity. This study identifies that the translation scaffold DAP5/eIF4G2 is upregulated in tumor‐infiltrating Tregs (ti‐Tregs). DAP5 mediates an alternate translation mode to sustain CD25 and MCL‐1 expression, which is critical for ti‐Treg stability and survival in the tumor microenvironment.
Xiaojiang Lai +12 more
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Supplementary Figure Legends 1-3 from A Novel Breast Cancer–Associated <i>BRIP1</i> (<i>FANCJ/BACH1</i>) Germ-line Mutation Impairs Protein Stability and Function [PDF]
, 2023 Arcangela De Nicolo +9 more
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TRIM40 Drives Pathological Cardiac Hypertrophy and Heart Failure via Ubiquitination of PKN2
Advanced Science, EarlyView.This study identifies the E3 ligase TRIM40 as a key driver of pathological cardiac hypertrophy. TRIM40 binds PKN2 via its B‐box domain and, through its C29‐dependent catalytic activity, mediates K63‐linked ubiquitination of PKN2. This modification enhances PKN2 phosphorylation at Ser815, thereby driving hypertrophy.
Risheng Zhao +12 more
wiley +1 more source
Novel mechanism of platinum resistance: Rapid selection of pre-existing BRCA1-proficient tumor cells during neoadjuvant chemotherapy (NACT) for ovarian cancer (OC) in BRCA1 germ-line mutation carriers [PDF]
, 2018 Evgeny N. Imyanitov +7 more
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Advanced Science, EarlyView.We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren +6 more
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Germ-Line Mutations In MEN1 Patients --Authors' Response [PDF]
Journal of Clinical Endocrinology & Metabolism, 1998 Chisato Tanaka +2 more
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Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients.
, 1992 Yoko Miyoshi +9 more
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Molecular genetics of development studied in the transgenic mouse. [PDF]
, 1989 Gruss, P., Westphal, H.
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