Results 141 to 150 of about 4,953,128 (334)

Medical Genetics: Penrose Honoured [PDF]

, 1973

openalex   +1 more source

Integrative miRNOMe profiling reveals the miR‐195‐5p–CHEK1 axis and its impact on luminal breast cancer outcomes

Molecular Oncology, EarlyView.
In luminal (ER+) breast carcinoma (BC), miRNA profiling identified miR‐195‐5p as a key regulator of proliferation that targets CHEK1, CDC25A, and CCNE1. High CHEK1 expression correlates with worse relapse‐free survival after chemotherapy, especially in patients with luminal A subtype.
Veronika Boušková, Marie Ehrlichová, Alžběta Spálenková, Ivona Krus, Simona Šůsová, Viktor Hlaváč, Vlasta Němcová, Renata Koževnikovová, Markéta Trnková, David Vrána, Jiří Gatěk, Kateřina Kopečková, Marcela Mrhalová, Soňa Měšťáková, Pavel Souček   +14 more
wiley   +1 more source

Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices

Advances in Medical Education and Practice, 2015
Michael J Wolyniak,1 Lynne T Bemis,2 Amy J Prunuske2 1Department of Biology, Hampden-Sydney College, Hampden-Sydney, VA, 2Department of Biomedical Sciences, University of Minnesota Medical School, Duluth, MN, USA Abstract: Genetics is an essential ...
Wolyniak MJ, Bemis LT, Prunuske AJ
doaj  

A monoallelic UXS1 variant associated with short‐limbed short stature

Molecular Genetics & Genomic Medicine
Background Serine residues in the protein backbone of heavily glycosylated proteoglycans are bound to glycosaminoglycans through a tetrasaccharide linker. UXS1 encodes UDP‐glucuronate decarboxylase 1, which catalyzes synthesis of UDP‐xylose, the donor of
Cecilie F. Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten, Marissa Lucy Maciej‐Hulme, Niclas Karlsson, Trine Prescott, Elise Sandås Sand, Berit Woldseth, Katja Benedikte Prestø Elgstøen, Øystein L. Holla   +11 more
doaj   +1 more source

Association of high‐dose radioactive iodine therapy with PPM1D‐mutated clonal hematopoiesis in older individuals

Molecular Oncology, EarlyView.
In thyroid cancer patients, high‐dose (≥7.4 GBq) radioactive iodine therapy (RAIT) was associated with a higher prevalence of clonal hematopoiesis (variant allele frequency >2%) in individuals aged ≥50 years (OR = 2.44). In silico analyses showed that truncating PPM1D mutations conferred a selective advantage under these conditions.
Jaeryuk Kim, Sungwoo Bae, Jaeyong Choi, Sun‐Wha Im, Bukyoung Cha, Gyeongseo Jung, Sun Wook Cho, Eul‐Ju Seo, Young Ah Lee, Jin Chul Paeng, Young Joo Park, Jong‐Il Kim   +11 more
wiley   +1 more source

Victor A. McKusick, the "Father of Medical Genetics". [PDF]

Audiol Res, 2021
Martini A, Cassina M.
europepmc   +1 more source

Journal of Medical Genetics

, 1963

openalex   +2 more sources

Some aspects of medical genetics in island populations. [PDF]

, 1971
C. A. Clarke
openalex   +1 more source

Chimeric diphtheria toxin–CCL8 cytotoxic peptide for breast cancer management

Molecular Oncology, EarlyView.
DTCCL8 is a recombinant fusion toxin that targets cancer cells expressing chemokine receptors. By combining diphtheria toxin with CCL8, DTCCL8 binds to multiple receptors on tumor cells and induces selective cytotoxicity. This strategy enables receptor‐mediated targeting of cancer and may support the development of chemokine‐guided therapeutics ...
Bernardo Chavez, Asieh Naderi, Kim‐Tuyen Huynh‐Dam, Vitali Sikirzhytski, Ioulia Chatzistamou, Hippokratis Kiaris   +5 more
wiley   +1 more source

Array genotyping as diagnostic approach in medical genetics. [PDF]

Mol Genet Genomic Med, 2022
Witsch-Baumgartner M, Schwaninger G, Schnaiter S, Kollmann F, Burkhard S, Gröbner R, Mühlegger B, Schamschula E, Kirchmeier P, Zschocke J.   +9 more
europepmc   +1 more source