Results 331 to 340 of about 13,340,828 (402)

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.

, 1992
Bernd Schäfer, R W BISHOP, V.J. Kratunis, Stephen Kalinowski, Stephen T. Mosley, K. Michael Gibson, Ryouichi Tanaka   +6 more
openalex   +1 more source

Protein O‐glycosylation in the Bacteroidota phylum

FEBS Open Bio, EarlyView.
Species of the Bacteroidota phylum exhibit a unique O‐glycosylation system. It modifies noncytoplasmic proteins on a specific amino acid motif with a shared glycan core but a species‐specific outer glycan. A locus of multiple glycosyltransferases responsible for the synthesis of the outer glycan has been identified.
Lonneke Hoffmanns, Dennis Svedberg, André Mateus   +2 more
wiley   +1 more source

Gene and cell therapy of human genetic diseases: Recent advances and future directions. [PDF]

J Cell Mol Med
Cetin B, Erendor F, Eksi YE, Sanlioglu AD, Sanlioglu S.   +4 more
europepmc   +1 more source

Long non‐coding RNAs as therapeutic targets in head and neck squamous cell carcinoma and clinical application

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) occupy an abundant fraction of the eukaryotic transcriptome and an emerging area in cancer research. Regulation by lncRNAs is based on their subcellular localization in HNSCC. This cartoon shows the various functions of lncRNAs in HNSCC discussed in this review.
Ellen T. Tran, Ruchi A. Patel, Amogh Chariyamane, Ratna B. Ray   +3 more
wiley   +1 more source

Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden. [PDF]

Hum Genomics
Yousef NA, ElHarouni AA, Shaik NA, Banaganapalli B, Al Ghamdi AF, Galal AH, Alahmadi TS, Shuaib T, Aljeaid D, Alshaer DS, Almutadares M, Elango R.   +11 more
europepmc   +1 more source

The role of circular RNAs in regulating cytokine signaling in cancer

FEBS Open Bio, EarlyView.
Cytokines present in the tumor microenvironment fuel cancer development. Aberrant expression of circRNAs contributes to cancer progression. Cytokines are involved in regulating circRNA biogenesis. Furthermore, aberrantly expressed circRNAs regulate the expression of ligands, receptors, and downstream effectors involved in cytokine signaling to promote ...
Vandana Joshi, Swati, Amit Mishra, Amaresh Panda, Vivek Sharma   +4 more
wiley   +1 more source

Short peptide perturbs spermatogenesis via immune microenvironment dysregulation and mitochondrial imbalance

FEBS Open Bio, EarlyView.
In the blood–testis barrier, occludin is crucial for tight junctions. This study demonstrates that occludin‐targeting short peptides disrupt junction integrity, inducing immune cell infiltration, tumor necrosis factor‐α/interleukin‐6 secretion and mitochondrial dysfunction, ultimately triggering apoptosis.
Heng Wang, Xiaofang Tan, Deyu Chen
wiley   +1 more source

Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine. [PDF]

Children (Basel)
Kansal R.
europepmc   +1 more source

Identifying prognostic targets in metastatic prostate cancer beyond AR

FEBS Open Bio, EarlyView.
Genome‐wide functional screens combined with a large gene expression database and clinical outcomes can identify new therapeutic vulnerabilities in prostate cancer. Eight potentially druggable targets demonstrated strong dependency in cell lines, were associated with worse prognosis clinically, and showed evidence of protein expression in prostate ...
Emily Feng, Eric Feng, Tracy Berg, Isabella S. Nguyen, Lilac G. Nguyen, William Chen, Meng Zhang, David Quigley, Marina Sharifi, Haolong Li, Ilsa Coleman, Peter S. Nelson, Martin Sjöström, Shuang G. Zhao   +13 more
wiley   +1 more source

The application of whole-exome sequencing in the early diagnosis of rare genetic diseases in children: a study from Southeastern China. [PDF]

Front Pediatr
Lai G, Gu Q, Lai Z, Chen H, Chen J, Huang J.   +5 more
europepmc   +1 more source