Results 201 to 210 of about 1,221,619 (355)

Medical genetics: advances in brief: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness [PDF]

, 1993
Andrew O.M. Wilkie
openalex   +1 more source

Genomics‐led approach to drug testing in models of undifferentiated pleomorphic sarcoma

Molecular Oncology, EarlyView.
GA text Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell lines. A combination of trametinib and infigratinib was synergistic in the majority of UPS cell lines tested, which was further confirmed in an ex ...
Piotr J. Manasterski, Molly R. Danks, John P. Thomson, Morwenna Muir, Martin Lee, John C. Dawson, Ana T. Amaral, Juan Diaz‐Martin, David S. Moura, Javier Martin‐Broto, Ali Alsaadi, Donald M. Salter, Ailsa J. Oswald, Graeme Grimes, Larry Hayward, Ted R. Hupp, Karen Sisley, Paul H. Huang, Neil O. Carragher, Valerie G. Brunton   +19 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

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

Medical genetics: advances in brief: The psychological consequences of predictive testing for Huntington's disease [PDF]

, 1993
A. Norman
openalex   +1 more source

The subcellular distribution of phosphorylated Y‐box‐binding protein‐1 at S102 in colorectal cancer patients, stratified by KRAS mutational status and clinicopathological features

Molecular Oncology, EarlyView.
This study identifies nuclear YB‐1 S102 phosphorylation as a marker associated with KRAS and FBXW7 mutations in colorectal cancer. Mutated KRAS correlates specifically with nuclear, not cytoplasmic, S102 YB‐1. These findings provide the first ex vivo evidence of this link in CRC and suggest future studies should assess the prognostic and therapeutic ...
Konstanze Lettau, Stephan Forchhammer, Birgit Fehrenbacher, Lejla Mahmutovic, Marcus Scharpf, Gunnar Blumenstock, Martin Schaller, Irina Bonzheim, Shayan Khozooei, Mahmoud Toulany   +9 more
wiley   +1 more source

Developing medical genetics in a low-income country: Unveiling the journey of the Pakistani Society of Medical Genetics and Genomics (PSMG). [PDF]

Genet Med Open
Furqan A, Ahmed SA, Naeem R, Ashfaq M.
europepmc   +1 more source

Medical genetics: advances in brief: Antenatal maternal serum screening for Down's syndrome: results of a demonstration project [PDF]

, 1992
A. R. Norman
openalex   +1 more source

A nucleotide‐independent, pan‐RAS‐targeted DARPin elicits anti‐tumor activity in a multimodal manner

Molecular Oncology, EarlyView.
We report a Designed Ankyrin Repeat Protein that binds and inhibits RAS proteins, which serve as central cell signaling hubs and are essential for the progression of many cancers. Its unique feature is that it does not discriminate between different RAS isoforms or mutations and is capable of binding to RAS in both its active (GTP‐bound) and inactive ...
Jonas N. Kapp, Wouter P. R. Verdurmen, Jonas V. Schaefer, Kari Kopra, Gabriela Nagy‐Davidescu, Elodie Richard, Marie‐Julie Nokin, Patrick Ernst, Rastislav Tamaskovic, Martin Schwill, Ralph Degen, Claudia Scholl, David Santamaria, Andreas Plückthun   +13 more
wiley   +1 more source

Medical genetics: advances in brief: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci [PDF]

, 1994
J. C K Barber
openalex   +1 more source