Results 51 to 60 of about 5,183,482 (306)

Subcellular localization of the five members of the human steroid 5α-reductase family [PDF]

open access: yes, 2017
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

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

open access: yesPediatric Blood &Cancer, EarlyView.
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

open access: yeseLife, 2017
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]

open access: yes, 2019
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

open access: yesPediatric Blood &Cancer, EarlyView.
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]

open access: yes, 2012
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]

open access: yes, 2015
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]

open access: yes, 2014
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

Two Faces of NOTCH1 in Childhood Lymphoblastic T‐Cell Neoplasia: Prognostic Divergence of Mutational and Structural Aberrations

open access: yesPediatric Blood &Cancer, EarlyView.
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]

open access: yes, 2013
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

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