Results 121 to 130 of about 1,217,828 (289)

Sturge-Weber Syndrome: A Review of Pathophysiology, Genetics, Clinical Features, and Current Management Approache. [PDF]

Appl Clin Genet, 2023
Sánchez-Espino LF, Ivars M, Antoñanzas J, Baselga E.   +3 more
europepmc   +1 more source

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core  

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Identification of eight genes associated with recurrent patellar dislocation

iScience
Summary: The inheritance of recurrent patellar dislocation (RPD) is known, but the susceptible gene remains unidentified. Here, we performed the first whole exome sequencing (WES) cohort study to identify the susceptible genes.
Zijie Xu, Siyuan Huang, Yifan Song, Chao Xu, Hongyu Yan, Ouyang Linkun, Bo Lv, Fuzhen Yuan, Bingbing Xu, Haijun Wang, Ruibin Xi, Jia-Kuo Yu   +11 more
doaj   +1 more source

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History. [PDF]

Am J Ophthalmol, 2023
Daich Varela M, Georgiou M, Alswaiti Y, Kabbani J, Fujinami K, Fujinami-Yokokawa Y, Khoda S, Mahroo OA, Robson AG, Webster AR, AlTalbishi A, Michaelides M.   +11 more
europepmc   +1 more source

Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC) [PDF]

, 2023
Kelly Kohut, Beverley Speight, Julie Young, Rosalind Way, Jennifer Wiggins, Laura Monje‐Garcia, Diana Eccles, Claire Foster, Lesley Turner, Katie Snape, Helen Hanson, on behalf of the CanGene-CanVar Patient Reference Panel   +11 more
openalex   +1 more source

Cell wall target fragment discovery using a low‐cost, minimal fragment library

FEBS Letters, EarlyView.
LoCoFrag100 is a fragment library made up of 100 different compounds. Similarity between the fragments is minimized and 10 different fragments are mixed into a single cocktail, which is soaked to protein crystals. These crystals are analysed by X‐ray crystallography, revealing the binding modes of the bound fragment ligands.
Kaizhou Yan, Mathew Stanley, Olawale Raimi, Andrew T. Ferenbach, Helge C Dorfmueller, Daan M. F. van Aalten   +5 more
wiley   +1 more source

The potential of RNA methylation in the treatment of cardiovascular diseases

iScience
Summary: RNA methylation has emerged as a dynamic regulatory mechanism that impacts gene expression and protein synthesis. Among the known RNA methylation modifications, N6-methyladenosine (m6A), 5-methylcytosine (m5C), 3-methylcytosine (m3C), and N7 ...
Kai Wang, YuQin Wang, YingHui Li, Bo Fang, Bo Li, Wei Cheng, Kun Wang, SuMin Yang   +7 more
doaj   +1 more source

Treacher Collins Syndrome: Genetics, Clinical Features and Management. [PDF]

Genes (Basel), 2021
Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.   +3 more
europepmc   +1 more source

New Insights on the Genetics of Pheochromocytoma and Paraganglioma and Its Clinical Implications [PDF]

, 2022
Sakshi Jhawar, Yasuhiro Arakawa, Suresh Kumar, Diana Grace Varghese, Yoo Sun Kim, Nitin Roper, Fathi Elloumi, Yves Pommier, Karel Pacák, Jaydira Del Rivero   +9 more
openalex   +1 more source