Results 151 to 160 of about 675,403 (292)

Canadian consensus for the assessment and testing of Lynch syndrome. [PDF]

J Med Genet
Aronson M, Palma L, Semotiuk K, Nuk J, Pollett A, Singh H, Rothenmund H, Racher H, Jessen J, Pautler SE, Rusnak A, Rutka M, Etchegary H, Tiano T, Kaurah P, Dawson L, Hawrysh A, Ward T, Bedard A, Sheffield BS, Lerner-Ellis J, Jacob K, Ferguson S, Kim CA, Chamberlain E, Dornan K, Waldman L, Holter S, Horte J, Hyde A, Kwon J, MacMillan A, O'Loughlin M, Tabori U, Gallinger S, Kim R.   +35 more
europepmc   +1 more source

Genetics in the Medical Curriculum

Academic Medicine, 1946
J C Haley, G Gordan Robertson
openaire   +4 more sources

Medical genetics in Israel. [PDF]

Journal of Medical Genetics, 1989
B Bonne-Tamir, R Voss, G Barkai, M B Katznelson, R. M. Goodman, Y Shiloh, A Adam, Gideon Bach, B Goldman, B Padeh   +9 more
openaire   +3 more sources

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

Author Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes. [PDF]

Nat Genet
Huerta-Chagoya A, Schroeder P, Mandla R, Li J, Morris L, Vora M, Alkanaq A, Nagy D, Szczerbinski L, Madsen JGS, Bonàs-Guarch S, Mollandin F, Cole JB, Porneala B, Westerman K, Li JH, Pollin TI, Florez JC, Gloyn AL, Carey DJ, Cebola I, Mirshahi UL, Manning AK, Leong A, Udler M, Mercader JM.   +25 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

Correction: Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research. [PDF]

Mol Psychiatry
Cai N, Verhulst B, Andreassen OA, Buitelaar J, Edenberg HJ, Hettema JM, Gandal M, Grotzinger A, Jonas K, Lee P, Mallard TT, Mattheisen M, Neale MC, Nurnberger JI, Peyrot WJ, Tucker-Drob EM, Smoller JW, Kendler KS.   +17 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

Uptake, utility and resource requirements of a genetic counselling telephone helpline within the BRCA-DIRECT digital pathway for mainstreamed BRCA testing in patients with breast cancer. [PDF]

J Med Genet
Torr B, Kavanaugh G, Hamill M, Jones C, Harder H, Allen S, Garrett A, Choi S, Way R, Gold R, Taylor A, Gabe R, Lucassen A, Manchanda R, George A, Hubank M, Bremner S, Gandhi A, Kemp Z, Evans DG, Fallowfield L, Jenkins V, Turnbull C, Turnbull C.   +23 more
europepmc   +1 more source

Thermal proteome profiling and proteome analysis using high‐definition mass spectrometry demonstrate modulation of cholesterol biosynthesis by next‐generation galeterone analog VNPP433‐3β in castration‐resistant prostate cancer

Molecular Oncology, EarlyView.
Elevated level of cholesterol is positively correlated to prostate cancer development and disease severity. Cholesterol‐lowering drugs, such as statins, are demonstrated to inhibit prostate cancer. VNPP433‐3β interrupts multiple signaling and metabolic pathways, including cholesterol biosynthesis, AR‐mediated transcription of several oncogenes, mRNA 5′
Retheesh S. Thankan, Elizabeth Thomas, Mehari M. Weldemariam, Puranik Purushottamachar, Weiliang Huang, Maureen A. Kane, Yuji Zhang, Nicholas Ambulos, Bi‐Dar Wang, David Weber, Vincent C. O. Njar   +10 more
wiley   +1 more source