Results 121 to 130 of about 1,061,050 (301)

Shared Sporadic and Somatic Thyrotropin Receptor Mutations Display More Active In Vitro Activities than Familial Thyrotropin Receptor Mutations

, 2011
Background: Germline thyrotropin receptor (TSHR) mutations are associated with sporadic congenital nonautoimmune hyperthyroidism and familial nonautoimmune hyperthyroidism. Somatic TSHR mutations are associated with toxic thyroid nodules (TTNs).
GÖZÜ, HÜLYA
core   +1 more source

From energy provision to protein synthesis: Tunnelling nanotubes as mediators of intercellular metabolic cooperation in cancer

FEBS Open Bio, EarlyView.
The cytoskeleton‐mediated transport of mitochondria via tunnelling nanotubes restores respiration, increases ATP production, rescues cells from apoptosis, activates the AKT/mTOR signalling pathway, promotes cell migration and invasiveness, contributes to cancer progression and treatment resistance.
Stanislava Martínková, Jan Trnka
wiley   +1 more source

Somatic UBA1 mutations in pediatric MDS/AML: first cases suggest distinct pathogenesis from adult VEXAS syndrome [PDF]

We report pediatric myeloid neoplasms with secondary somatic UBA1 mutations: one with somatic NRAS and UBA1_S56F subclone, another with germline RUNX1 disorder and somatic SH2B3 and UBA1_M41L clones.
Beck, D.B., Ribeiro, R.C., Savic, S., Sharathkumar, A., Oak, N., Sharma, R., Patel, B.A., Gutierrez-Rodrigues, F., Shenton, G., Kotmayer, L., Halyko, M., Nichols, K.E., Wlodarski, M.W.   +12 more
core   +1 more source

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source

Importin 7 mediates the nuclear import of HIV‐1 integrase via a specific interacting interface

FEBS Open Bio, EarlyView.
HIV‐1 integrase enables viral DNA integration into the host genome. By binding to the core domain of the host protein Importin 7 via its C‐terminal domain, the integrase is transported across the nuclear membrane into the nucleus, where integration of the viral genome into host DNA takes place. This translocation is a critical step for subsequent viral
Juana Bana, Avigail Yariv, Tal Oppenheim, Hadar Amartely, Dana Reichmann, Oded Livnah   +5 more
wiley   +1 more source

Detection of Somatic Mutations in Sporadic Epilepsies

Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests.

core  

Location of somatic mutations in 3′UTRs.

, 2012
For each somatic mutation, the percentage of the distance from the start of the 3′UTR to the somatic mutation compared to the total length of the 3′UTR was calculated.
Jesse D. Ziebarth (127893), Yan Cui (9885), Anindya Bhattacharya (127895)   +2 more
core   +1 more source

ATZ‐1 promotes DNA replication efficiency to maintain normal meiotic function

FEBS Open Bio, EarlyView.
Absence of ATZ‐1 interferes with meiotic DNA replication and cell cycle function via CHK‐1. This causes downstream defects associated with DNA damage and genomic integrity. Taken together, this study suggests that ATZ‐1 influences DNA replication efficiency and cell cycle function to maintain normal meiotic function.
Taylin E. Gourley, Luke W. Molesworth, Nethma H. Waduge, Fahimeh Eskandari, Peter R. Boag, Gregory M. Davis   +5 more
wiley   +1 more source

Somatic Mutations of FOXE1 in Papillary Thyroid Cancer

, 2015
Somatic Mutations of FOXE1 in Papillary Thyroid ...
C Gilfillan (13319124), M Bullock (9636434), Y Yao (10680891), RJ Clifton-Bligh (15900482), PJ Fuller (14453991), M Mond (13319019)   +5 more
core  

Selected somatic mutations that alter miRNA target sites in cancer-related genes.

, 2012
a:Mutations in bold type indicate somatic mutations in genes over-expressed in cancers that create or enhance miRNA target sites or somatic mutations in genes under-expressed in cancer that disrupt or hinder miRNA target sites.
Jesse D. Ziebarth (127893), Yan Cui (9885), Anindya Bhattacharya (127895)   +2 more
core   +1 more source