Results 221 to 230 of about 1,278,547 (317)

Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. [PDF]

Am J Med Genet C Semin Med Genet, 2022
Connaughton DM, Hildebrandt F.
europepmc   +1 more source

P525: Medical genetics providers require training and institutional support to integrate pharmacogenomic testing [PDF]

John Imbrie, Christina G. Tise, Kendall Schmidt, Hetanshi Naik, Stuart A. Scott   +4 more
openalex   +1 more source

Improving PARP inhibitor efficacy in bladder cancer without genetic BRCAness by combination with PLX51107

Molecular Oncology, EarlyView.
Clinical trials on PARP inhibitors in urothelial carcinoma (UC) showed limited efficacy and a lack of predictive biomarkers. We propose SLFN5, SLFN11, and OAS1 as UC‐specific response predictors. We suggest Talazoparib as the better PARP inhibitor for UC than Olaparib.
Jutta Schmitz, Anna L. Bartkowiak, Michael Rose, Nora Kolks, Patrick Petzsch, Vandana Solanki, Anne Stoffel, Bianca Faßbender, Leandra Lepping, Julka Volkamer, Karl Köhrer, Marc Seifert, Tokameh Mahmoudi, Tahlita C. M. Zuiverloon, Günter Niegisch, Michèle J. Hoffmann   +15 more
wiley   +1 more source

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Aggarwal VS, Guha S, Lebo MS, Retterer K, Scharfe C, Bean LJH, ACMG Laboratory Quality Assurance Committee8∗documents@acmg.net.   +6 more
europepmc   +1 more source

Integrating Medical Genetics Into Precision Oncology Practice in the Veterans Health Administration: The Time Is Now. [PDF]

JCO Oncol Pract, 2022
Scott A, Mohan A, Austin S, Amini E, Raupp S, Pannecouk B, Kelley MJ, Narla G, Ramnath N.   +8 more
europepmc   +1 more source

Cytoplasmic p21 promotes stemness of colon cancer cells via activation of the NFκB pathway

Molecular Oncology, EarlyView.
Cytoplasmic p21 promotes colorectal cancer stem cell (CSC) features by destabilizing the NFκB–IκB complex, activating NFκB signaling, and upregulating BCL‐xL and COX2. In contrast to nuclear p21, cytoplasmic p21 enhances spheroid formation and stemness transcription factor CD133.
Arnatchai Maiuthed, Kerstin Huebner, Katharina Erlenbach‐Wuensch, Chuanpit Hampel, Daniela Thalheim, Adriana Vial‐Roehe, Bodee Nutho, Susanne Merkel, Arndt Hartmann, Pithi Chanvorachote, Regine Schneider‐Stock   +10 more
wiley   +1 more source

Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Gangji RN, Ali QA, Dhamija R, Corado AM, Kharbanda S, ACMG Therapeutics Committee6∗documents@acmg.net.   +5 more
europepmc   +1 more source

Genome editing in clinical genetics: points to consider—a statement of the American College of Medical Genetics and Genomics [PDF]

, 2017
ACMG Board of Directors
openalex   +1 more source

Class IIa HDACs forced degradation allows resensitization of oxaliplatin‐resistant FBXW7‐mutated colorectal cancer

Molecular Oncology, EarlyView.
HDAC4 is degraded by the E3 ligase FBXW7. In colorectal cancer, FBXW7 mutations prevent HDAC4 degradation, leading to oxaliplatin resistance. Forced degradation of HDAC4 using a PROTAC compound restores drug sensitivity by resetting the super‐enhancer landscape, reprogramming the epigenetic state of FBXW7‐mutated cells to resemble oxaliplatin ...
Vanessa Tolotto, Nicolò Gualandi, Ylenia Cortolezzis, Raffaella Picco, Monica Colitti, Francesca D'Este, Mariachiara Gani, Wayne W. Hancock, Giovanni Terrosu, Cristina Degrassi, Francesca Agostini, Claudio Brancolini, Luigi E. Xodo, Eros Di Giorgio   +13 more
wiley   +1 more source

American College of Medical Genetics and Genomics ACT Sheets Are a Vital Resource for State Newborn Screening Programs. [PDF]

Int J Neonatal Screen
Sack V, Etienne S, Beal G, Bradley S, Caggana M.   +4 more
europepmc   +1 more source