Results 111 to 120 of about 10,192,906 (282)
Finding novel vulnerabilities of hypomorphic BRCA1 alleles
Molecular Oncology, EarlyView.Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder +10 more
wiley +1 more source
, 2012 Background: Inherited factor VII (FVII) deficiency is the most common among rare congenital bleeding disorders, accounting for one symptomatic individual per 500000 populations, and is characterized by autosomal recessive inheritance. Disorder is usually
Mirbehbahani, N. B.
core +1 more source
MITF maintains genome stability in nonmelanocyte lineages
Molecular Oncology, EarlyView.MITF is essential for melanocyte survival and acts as an oncogene in 10%–20% of melanomas. We show that MITF depletion causes genome instability in nonmelanocytic cells, leading to LATS2‐mediated P53 activation, cell cycle arrest, and apoptosis. This study highlights the role of MITF as a genome maintenance factor beyond the melanocyte lineage. Created
Drifa H. Gudmundsdottir +13 more
wiley +1 more source
Heterozygous Deletion of the 3' Portion of Factor X Gene in a Family with Factor X Deficiency.
, 1989 Heterozygous Deletion found in the 3' Portion of Factor X Gene in a family with Coagulation Factor X ...
BERNARDI, Francesco +5 more
core
Late diagnosed factor VII deficiency – a rare but significant haemorrhagic diathesis
Factor VII (FVII) deficiency is a rare but significant inherited autosomal recessive coagulation disorder, occurring with a frequency of 1 in 300,000-500,000 people.
Beata Kuczyńska +4 more
core +1 more source
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc [PDF]
, 2008 Context: Mitochondrial cytochrome P450scc converts cholesterol to pregnenolone in all steroidogenic tissues. Although progesterone production from the fetally-derived placenta is necessary to maintain pregnancy to term, four patients with mutations in ...
Huang, NW +6 more
core
Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization
Molecular Oncology, EarlyView.In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu +13 more
wiley +1 more source
Post-COVID Factor X Deficiency: A Case Report From Pakistan. [PDF]
Cureus, 2022 Humayun O +4 more
europepmc +1 more source
Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients
, 1998 The spectrum of the clinical manifestations of congenital factor X deficiency was studied in 32 Iranian patients. The most frequent symptom was epistaxis, which occurred in 72% of patients, with all degrees of deficiency Other mucosal haemorrhages (e.g ...
P.M. Mannucci +6 more
core +1 more source
Molecular Oncology, EarlyView.The proposed mechanism of action for the CDK12/13 inhibitor and cyclin K degrader, CT7439. CDK12/13 inhibition interrupts transcription elongation, leading to increased DNA damage that results in cell death. This agent is a potentially novel treatment option for patients with colorectal cancer. Created in BioRender. Cyclin‐dependent kinase (CDK) 12 and
Wylie K. Watlington +10 more
wiley +1 more source