Results 181 to 190 of about 1,278,547 (317)

Basic concepts of medical genetics formal genetics, Part 3

Egyptian Journal of Medical Human Genetics, 2014
Mohammad Saad Zaghloul Salem
doaj   +1 more source

Medical genetics needs assessment: An online cross-sectional survey from Nepal. [PDF]

Genet Med Open
Gyawali P, Shrestha B, Beharry K, Agarwal G, Quinonez SC.   +4 more
europepmc   +1 more source

Omaveloxolone approved for patients aged 16 years and older with Friedreich ataxia (FRDA): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open, 2023
Lenahan A, Yano S, Graham B, Sen K, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Patient‐specific pharmacogenomics demonstrates xCT as predictive therapeutic target in colon cancer with possible implications in tumor connectivity

Molecular Oncology, EarlyView.
This study integrates transcriptomic profiling of matched tumor and healthy tissues from 32 colorectal cancer patients with functional validation in patient‐derived organoids, revealing dysregulated metabolic programs driven by overexpressed xCT (SLC7A11) and SLC3A2, identifying an oncogenic cystine/glutamate transporter signature linked to ...
Marco Strecker, Keren Zohar, Martin Böttcher, Thomas Wartmann, Henry Freudenstein, Maximilian Doelling, Mihailo Andric, Wenjie Shi, Or Kakhlon, Katrin Hippe, Beatrix Jahnke, Dimitrios Mougiakakos, Franziska Baenke, Daniel Stange, Roland S. Croner, Michal Linial, Ulf D. Kahlert   +16 more
wiley   +1 more source

Basic concepts of medical genetics, formal genetics, Part 1

Egyptian Journal of Medical Human Genetics, 2014
Mohammad Saad Zaghloul Salem
doaj   +1 more source

The Evolving Role of Artificial Intelligence in Medical Genetics: Advancing Healthcare, Research, and Biosafety Management. [PDF]

Genes (Basel)
Wu YC, Tuo N, Shi G, Li K, Song Z, Li Y.
europepmc   +1 more source

Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open, 2023
Poskanzer SA, Peña LDM, Niu Z, ACMG Therapeutics Committee6∗documents@acmg.net.   +3 more
europepmc   +1 more source

Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines [PDF]

, 2008
Kathryn E. Kronquist, Stephanie L. Sherman, Elaine Spector   +2 more
openalex   +1 more source

Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)

, 2021
Anthony R. Gregg, Mahmoud Aarabi, Susan Klugman, Natalia T. Leach, Michael T. Bashford, Tamar Goldwaser, Emily Chen, Teresa N. Sparks, Honey V. Reddi, Aleksandar Rajkovic, J.S. Dungan   +10 more
openalex   +2 more sources

Predictors of response and rational combinations for the novel MCL‐1 inhibitor MIK665 in acute myeloid leukemia

Molecular Oncology, EarlyView.
This study characterizes the responses of primary acute myeloid leukemia (AML) patient samples to the MCL‐1 inhibitor MIK665. The results revealed that monocytic differentiation is associated with MIK665 sensitivity. Conversely, elevated ABCB1 expression is a potential biomarker of resistance to the treatment, which can be overcome by the combination ...
Joseph Saad, Rhiannon Newman, Elmira Khabusheva, Sofia Aakko, Eric Durand, Mahesh Tambe, Heikki Kuusanmäki, Alun Parsons, Juho J. Miettinen, Komal Kumar Javarappa, Ezgi June Olgac, Nemo Ikonen, Mika Kontro, Kimmo Porkka, Heiko Maacke, Janghee Woo, Ensar Halilovic, Caroline A. Heckman   +17 more
wiley   +1 more source