Results 211 to 220 of about 1,273,127 (279)

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

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

20-year experience on prenatal diagnosis in a reference university medical genetics center in Turkey [PDF]

Turk J Med Sci, 2021
Durmaz B, Bolat H, Cengisiz Z, Akercan F, Sözen Türk T, Parıltay E, Solmaz AE, Kazandı M, Karaca E, Durmaz A, Aykut A, Sağol S, Akın H, Özkınay F, Çoğulu Ö.   +14 more
europepmc   +1 more source

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) [PDF]

, 2019
Priya S. Kishnani, Jennifer Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El‐Gharbawy, Laurie M. Brown, Stephen G. Kahler, Surekha Pendyal, Katalin M. Ross, Laurie A. Tsilianidis, David A. Weinstein, Michael S. Watson   +14 more
openalex   +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

Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies. [PDF]

Genes (Basel)
Horovitz DDG, Félix TM, Ferraz VEF.
europepmc   +1 more source

The 2019 US medical genetics workforce: a focus on clinical genetics. [PDF]

Genet Med, 2021
Jenkins BD, Fischer CG, Polito CA, Maiese DR, Keehn AS, Lyon M, Edick MJ, Taylor MRG, Andersson HC, Bodurtha JN, Blitzer MG, Muenke M, Watson MS.   +12 more
europepmc   +1 more source

Medical genetics casebook. A clinical introduction to medical ethics systems theory

, 1983
Kenneth W. Dumars
openalex  

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