Results 251 to 260 of about 1,278,547 (317)

Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Selvam P, Mares Beltrán CF, Sen K, Morales Corado A, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Diversity, inclusion and equity in medical genetics: The time is now. [PDF]

Am J Med Genet A, 2020
Quintero-Rivera F, Hisama FM.
europepmc   +1 more source

Transcriptional network analysis of PTEN‐protein‐deficient prostate tumors reveals robust stromal reprogramming and signs of senescent paracrine communication

Molecular Oncology, EarlyView.
Combining PTEN protein assessment and transcriptomic profiling of prostate tumors, we uncovered a network enriched in senescence and extracellular matrix (ECM) programs associated with PTEN loss and conserved in a mouse model. We show that PTEN‐deficient cells trigger paracrine remodeling of the surrounding stroma and this information could help ...
Ivana Rondon‐Lorefice, Jose I. Lopez, Aitziber Ugalde‐Olano, Maite Zufiaurre, Ianire Astobiza, Natalia Martin‐Martin, Laura Bozal‐Basterra, Saioa Garcia‐Longarte, Amaia Zabala‐Letona, Sofia Rey, Aida Santos‐Martin, Miguel Unda, Ana Loizaga‐Iriarte, Mariona Graupera, Paolo Nuciforo, Arkaitz Carracedo, Isabel Mendizabal   +16 more
wiley   +1 more source

Bioinformatics Methods in Medical Genetics and Genomics. [PDF]

Int J Mol Sci, 2020
Orlov YL, Baranova AV, Tatarinova TV.
europepmc   +1 more source

Next‐generation proteomics improves lung cancer risk prediction

Molecular Oncology, EarlyView.
This is one of very few studies that used prediagnostic blood samples from participants of two large population‐based cohorts. We identified, evaluated, and validated an innovative protein marker model that outperformed an established risk prediction model and criteria employed by low‐dose computed tomography in lung cancer screening trials.
Megha Bhardwaj, Clara Frick, Ben Schöttker, Bernd Holleczek, Hermann Brenner   +4 more
wiley   +1 more source

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Gordon AS, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, Gollob MH, Harrison SM, Hershberger RE, Richards CS, Stewart DR, Martin CL, Miller DT, ACMG Secondary Findings Working Group. Electronic address: documents@acmg.net.   +13 more
europepmc   +1 more source

Potential therapeutic targeting of BKCa channels in glioblastoma treatment

Molecular Oncology, EarlyView.
This review summarizes current insights into the role of BKCa and mitoBKCa channels in glioblastoma biology, their potential classification as oncochannels, and the emerging pharmacological strategies targeting these channels, emphasizing the translational challenges in developing BKCa‐directed therapies for glioblastoma treatment.
Kamila Maliszewska‐Olejniczak, Karolina Pytlak, Sandra Jaworowska, Bogusz Kulawiak, Piotr Bednarczyk   +4 more
wiley   +1 more source

Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee. [PDF]

Genes (Basel)
Vanderscheldon RK, Sukov WR, Gardner JA, Rehder CW, Levy B, Velagaleti GV, Toydemir RM, Tang G, Boles B, Cao Y, Mixon C, Zou YS, Astbury C, Tsuchiya KD, Peterson JF.   +14 more
europepmc   +1 more source

Reconstruction the genetics clinic building of SRI of Medical genetics of Tomsk scientific center of RAMS Siberian Branch

, 2015
Anatolii Polishchuk, Arkadii Petukhov, Gennadii Taiukin   +2 more
openalex   +1 more source