Subcellular localization of the five members of the human steroid 5α-reductase family [PDF]
In humans the steroid 5a-reductase (SRD5A) family comprises five integral membrane enzymes that carry out reduction of a double bond in lipidic substrates: D4-3-keto steroids, polyprenol and trans-enoyl CoA.
Asteriti, ITALIA ANNA +10 more
core +3 more sources
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel +3 more
wiley +1 more source
Structure of PINK1 and mechanisms of Parkinson's disease-associated mutations
Mutations in the human kinase PINK1 (hPINK1) are associated with autosomal recessive early-onset Parkinson's disease (PD). hPINK1 activates Parkin E3 ligase activity, involving phosphorylation of ubiquitin and the Parkin ubiquitin-like (Ubl) domain via ...
Atul Kumar +8 more
doaj +1 more source
Functional exploration of co-expression networks identifies a nexus for modulating protein and citric acid titres in Aspergillus niger submerged culture [PDF]
Background: Filamentous fungal cell factories are used to produce numerous proteins, enzymes, and organic acids. Protein secretion and filamentous growth are tightly coupled at the hyphal tip. Additionally, both these processes require ATP and amino acid
Cairns, Timothy C. +6 more
core +1 more source
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
The Expression of Heat Shock Protein (Hsp) 25 at Compression and Tension Area DuringAlveolar Bone Remodeling [PDF]
The activation of orthodontic appliance will generate mechanical force. This forceis used to depress tooth and the tissues surrounding it then stimulates alveolarbone remodeling. Alveolar bone remodeling is divided into compression andtension area.
Amin, M. N. (Muhammad)
core
Cezanne regulates E2F1-dependent HIF2α expression [PDF]
Mechanisms regulating protein degradation ensure the correct and timely expression of transcription factors such as hypoxia inducible factor (HIF).
Altun +48 more
core +4 more sources
The helicase HAGE prevents interferon-a-induced PML expression in ABCB5+ malignant melanoma-initiating cells by promoting the expression of SOCS1 [PDF]
The tumour suppressor PML (promyelocytic leukaemia protein) regulates several cellular pathways involving cell growth, apoptosis, differentiation and senescence.
A Carracedo +33 more
core +1 more source
ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider +4 more
wiley +1 more source
Endocervical glandular neoplasia associated with lobular endocervical glandular hyperplasia is HPV-independent and correlates with carbonic anhydrase-IX expression: a Gynaecological Oncology Group Study. [PDF]
BackgroundLobular endocervical glandular hyperplasia (LEGH) is a rare lesion of the uterine cervix. It has been proposed that LEGH may represent a precursor lesion to a group of mucinous adenocarcinoma with gastric phenotype (GA) that is independent of ...
Carter, R +9 more
core +1 more source

