Results 71 to 80 of about 123,315 (302)

PSMA8‐Containing 20S Proteasome Regulates Spermiogenesis and Male Fertility

open access: yesAdvanced Science, EarlyView.
PSMA8 assembles s20S proteasome that degrades specific substrates in elongating spermatids. Degradation of s20S‐substrates activates translation of FXR1‐target mRNAs, which are essential for mitochondrial sheath formation and sperm morphogenesis.
Huiwen Cao   +7 more
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

Allogeneic Hematopoietic Stem Cell Transplantation for Acute Myeloid Leukemia With a Germline DDX41 Mutation

open access: yesCase Reports in Hematology
According to the 2016 World Health Organization classification, a germline DEAD-box helicase 41 gene (DDX41) mutation with myeloid neoplasms has been newly classified. The clinical course of acute myeloid leukemia (AML) with a germline DDX41 mutation has
Shuro Yoshida   +7 more
doaj   +1 more source

A New Germline Stop Codon Mutation in Exon 15 of the Gene Predisposing to Familial Adenomatous Polyposis

open access: yesThe International Journal of Biological Markers, 2013
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder related to germline mutations of the adenomatous polyposis coli ( APC ) gene. It is characterized by the detection of numerous adenomatous polyps that, if untreated, develop into ...
Laura Schirosi   +5 more
doaj   +1 more source

A novel germline ARMC5 mutation in a patient with bilateral macronodular adrenal hyperplasia: a case report

open access: yesBMC Medical Genetics, 2018
Background Bilateral macronodular adrenal hyperplasia (BMAH) is a rare cause of Cushing’s syndrome (CS). BMAH is predominantly believed to be caused by two mutations, a germline and somatic one, respectively, as described in the two-hit hypothesis.
Qiuli Liu   +14 more
doaj   +1 more source

Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis [PDF]

open access: yesThe American Journal of Human Genetics, 2007
Patients with schwannomatosis develop multiple schwannomas but no vestibular schwannomas diagnostic of neurofibromatosis type 2. We report an inactivating germline mutation in exon 1 of the tumor-suppressor gene INI1 in a father and daughter who both had schwannomatosis.
Hulsebos, T.J.M.   +5 more
openaire   +4 more sources

Timing, rates and spectra of human germline mutation [PDF]

open access: yes, 2016
Germline mutations are a driving force behind genome evolution and genetic disease. We investigated genome-wide mutation rates and spectra in multi-sibling families.
Blair Smith   +31 more
core   +1 more source

FUCA2 Sustains AKT Signaling and Suppresses Senescence by Antagonizing FUT3‐Mediated ErbB3 Fucosylation in Lung Adenocarcinoma

open access: yesAdvanced Science, EarlyView.
ABSTRACT While targeted therapies have improved outcomes in lung adenocarcinoma (LUAD), many patients still lack targetable mutations. Here, we identified alpha‐L‐fucosidase 2 (FUCA2) as a crucial driver of LUAD by preventing cellular senescence. Mechanistically, through the restriction of fucosyltransferase 3 (FUT3)‐mediated α‐1,3‐fucosylation of ...
Lu Chen   +18 more
wiley   +1 more source

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

open access: yes, 2016
Familial medullary thyroid cancer (MTC) and its precursor, C cell hyperplasia (CCH), is associated with germline RET mutations causing multiple endocrine neoplasia type 2.
Cole, Trevor   +14 more
core   +1 more source

DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. [PDF]

open access: yes, 2014
Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of ...
Backes, F.J. (Floor)   +999 more
core   +1 more source

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