Results 141 to 150 of about 585,411 (243)

Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization. [PDF]

Genet Med Open
Le C, Tatunay K, Liu W, Lu H, Rodis NA, Nam T, Laurino MY, Dubard-Gault ME.   +7 more
europepmc   +1 more source

Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. [PDF]

J Endocrinol Invest, 2017
Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A, Klinefelter ItaliaN Group (KING).   +6 more
europepmc   +1 more source

Plasma lipidomic and metabolomic profiles in high‐grade glioma patients before and after 72‐h presurgery water‐only fasting

Molecular Oncology, EarlyView.
Presurgery 72‐h fasting in GB patients leads to adaptations of plasma lipids and polar metabolites. Fasting reduces lysophosphatidylcholines and increases free fatty acids, shifts triglycerides toward long‐chain TGs and increases branched‐chain amino acids, alpha aminobutyric acid, and uric acid.
Iris Divé, Lisa Hahnefeld, Katharina J. Wenger, Donat Kögel, Joachim Steinbach, Gerd Geisslinger, Michael W. Ronellenfitsch, Irmgard Tegeder   +7 more
wiley   +1 more source

Childhood Multiple Endocrine Neoplasia (MEN) Syndromes: Genetics, Clinical Heterogeneity and Modifying Genes. [PDF]

J Clin Med
Lanzaro F, De Biasio D, Cesaro FG, Stampone E, Tartaglione I, Casale M, Bencivenga D, Marzuillo P, Roberti D.   +8 more
europepmc   +1 more source

Neonatal diabetes in Ukraine: incidence, genetics, clinical phenotype and treatment. [PDF]

J Pediatr Endocrinol Metab, 2015
Globa E, Zelinska N, Mackay DJ, Temple KI, Houghton JA, Hattersley AT, Flanagan SE, Ellard S.   +7 more
europepmc   +1 more source

Transcriptome‐wide analysis of circRNA and RBP profiles and their molecular relevance for GBM

Molecular Oncology, EarlyView.
CircRNAs are differentially expressed in glioblastoma primary tumors and might serve as therapeutic targets and diagnostic markers. The investigation of circRNA and RNA‐binding proteins (RBPs) interactions shows that distinct RBPs play a role in circRNA biogenesis and function.
Julia Latowska‐Łysiak, Żaneta Zarębska, Marcin P. Sajek, Adriana Grabowska, Alessia Buratin, Paweł Głodowicz, Julia O. Misiorek, Konrad Kuczyński, Stefania Bortoluzzi, Marek Żywicki, Jan G. Kosiński, Agnieszka Rybak‐Wolf, Rafał Piestrzeniewicz, Anna M. Barciszewska, Katarzyna Rolle   +14 more
wiley   +1 more source

Single center experience developing sustainable genetics clinical care: a model to address workforce challenges in medical genetics. [PDF]

Curr Opin Pediatr
Kinney A, Dalton SA, McCarrier J, Basel D.   +3 more
europepmc   +1 more source

Targeting the MDM2‐MDM4 interaction interface reveals an otherwise therapeutically active wild‐type p53 in colorectal cancer

Molecular Oncology, EarlyView.
This study investigates an alternative approach to reactivating the oncosuppressor p53 in cancer. A short peptide targeting the association of the two p53 inhibitors, MDM2 and MDM4, induces an otherwise therapeutically active p53 with unique features that promote cell death and potentially reduce toxicity towards proliferating nontumor cells.
Sonia Valentini, Giada Mele, Marika Attili, Maria Rita Assenza, Fulvio Saccoccia, Francesca Sardina, Cinzia Rinaldo, Roberto Massari, Nicola Tirelli, Alfredo Pontecorvi, Fabiola Moretti   +10 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  

Peutz-Jeghers Syndrome: A Comprehensive Review of Genetics, Clinical Features, and Management Approaches. [PDF]

Cureus
Amru RL, Dhok A.
europepmc   +1 more source