Results 141 to 150 of about 688,262 (355)

A narrative review of multiple endocrine neoplasia syndromes: genetics, clinical features, imaging findings, and diagnosis. [PDF]

Ann Transl Med, 2021
Hu X, Guan J, Wang Y, Shi S, Song C, Li ZP, Feng ST, Chen J, Luo Y.   +8 more
europepmc   +1 more source

Diagnostic Testing in Epilepsy Genetics Clinical Practice

, 2018
Biruté Tumiene, Algirdas Utkus, Vaidutis Kučinskas, Aleš Maver, Borut Peterlin   +4 more
openalex   +2 more sources

IMPDH inhibition enhances cytarabine efficacy in SAMHD1‐expressing leukaemia cells via guanine nucleotide depletion

Molecular Oncology, EarlyView.
Cytarabine is a key therapy for acute myeloid leukaemia (AML), but its efficacy is limited by the dNTPase SAMHD1, which hydrolyses its active metabolite. Screening nucleotide biosynthesis inhibitors revealed that IMPDH inhibitors selectively sensitise SAMHD1‐proficient AML cells to cytarabine.
Miriam Yagüe‐Capilla, Christopher Dirks, Caroline Eiden, Sonja K. Fesenmayer, Femke M. Hormann, Yolande Klootsema, Ingrid Lilienthal, Si Min Zhang, Nikolas Herold, Sean G. Rudd   +9 more
wiley   +1 more source

Clinical genetics of melanoma

Hereditary Cancer in Clinical Practice, 2012
Dębniak T
doaj   +1 more source

Molecular Genetics, Clinical Characteristics, and Treatment Outcomes of K_ATP-Channel Neonatal Diabetes Mellitus in Vietnam National Children's Hospital. [PDF]

Front Endocrinol (Lausanne), 2021
Ngoc CTB, Dien TM, De Franco E, Ellard S, Houghton JAL, Lan NN, Thao BP, Khanh NN, Flanagan SE, Craig ME, Dung VC.   +10 more
europepmc   +1 more source

Keratin 19 as a prognostic marker and contributing factor of metastasis and chemoresistance in high‐grade serous ovarian cancer

Molecular Oncology, EarlyView.
Keratin 19 (KRT19) is overexpressed in high‐grade serous ovarian cancer with high levels of Kallikrein‐related peptidases (KLK) 4–7 and is associated with poor survival. In vivo analyses demonstrate that elevated KRT19 increases peritoneal tumour burden.
Sophia Bielesch, Isabel Vogel, Sina Nokodian, Johanna Moeller, Antonia Blechschmidt, Vicky Hecht, Vanessa Kuentzel, Katharina Thiedig, Melissa Schwab, Oliver Schilling, Holger Bronger, Marion Kiechle, Viktor Magdolen, Tobias Dreyer   +13 more
wiley   +1 more source

Clinical genetics of melanoma

Hereditary Cancer in Clinical Practice, 2011
Debniak T
doaj   +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

Clinical genetics

, 1983
http://dx.doi.org/10.1136/bmj.287.6398 ...
Burn, John
core  

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source