Results 231 to 240 of about 6,062,135 (332)

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Evaluation of Women With Peripartum or Dilated Cardiomyopathy and Their First-Degree Relatives: The DCM Precision Medicine Study. [PDF]

Circ Genom Precis Med
Kransdorf EP, Jain R, Mead JO, Haas G, Hofmeyer M, Ewald GA, Diamond J, Owens A, Lowes B, Stoller D, Tang WHW, Drazner MH, Martin CM, Shah P, Tallaj J, Katz S, Jimenez J, Shore S, Smart F, Wang J, Gottlieb SS, Judge DP, Huggins GS, Cowan J, Parker P, Cao J, Hurst NS, Jordan E, Ni H, Kinnamon DD, Hershberger RE.   +30 more
europepmc   +1 more source

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2019
Acmg Board of Directors
semanticscholar   +1 more source

Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model

Molecular Oncology, EarlyView.
Targeted therapy was evaluated in SHH medulloblastoma using neuroepithelial stem cell (NES) and tumor‐derived NES‐like (tNES) models in 2D monolayers and 3D spheroids. PI3K, AKT, and CDK4/6 inhibitors had minimal effects in NES but markedly reduced viability and growth and induced apoptosis in tNES cells, revealing distinct therapeutic vulnerabilities.
Monika Lukoseviciute, Madeleine Birgersson, Paolo Ceriani, Margareta Wilhelm, Ourania N Kostopoulou   +4 more
wiley   +1 more source

Correction: GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy. [PDF]

Mol Psychiatry
Lemke JR, Eoli A, Krey I, Popp B, Strehlow V, Wittekind DA, Vuorinen AL, Aldhalaan HM, Baer S, de Saint Martin A, Hammer TB, Herman I, Hornemann F, Ingebrigtsen T, Lederer D, Lesca G, Marafie D, Mathot M, Rosenfeld JA, Møller RS, Schelhaas HJ, Stillman C, Orsini A, Patel AD, Piard J, Veggiotti P, Vlaskamp DRM, Weckhuysen S, Traynelis SF, Benke TA, Heyne HO, Syrbe S.   +31 more
europepmc   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, EarlyView.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

Cystic Fibrosis-Related Diabetes and Celiac Disease in a Paediatric CF Patient: Presence of CFRD-Associated SNPs rs7903146 (TT) and rs4077468 (GG). [PDF]

Respirol Case Rep
Kvaratskhelia E, Agladze D, Vardosanidze N, Ghughunishvili M, Surmava S, Abzianidze E, Tkemaladze T.   +6 more
europepmc   +1 more source

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

Molecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera, Laura Vela‐Martín, Pablo Fernández‐Navarro, José Luis López‐Lorenzo, Javier Cornago, Pilar Llamas, Eduardo Pérez‐Gómez, José Luis Marín‐Rubio, Manuel Fresno, Javier Santos, José Fernández‐Piqueras, María Villa‐Morales   +11 more
wiley   +1 more source

Editorial: The importance of faculty development in medical education. [PDF]

Front Genet
Pereza N, Hauser G, Jovanović P.
europepmc   +1 more source

CCDC80 suppresses high‐grade serous ovarian cancer migration via negative regulation of B7‐H3

Molecular Oncology, EarlyView.
PAX8 is a lineage‐specific master regulator of transcription in high‐grade serous ovarian cancer (HGSC) progression. We show for the first time that PAX8 facilitates proliferation and metastasis by repressing the cell autonomous tumor suppressor CCDC80 and inducing B7‐H3 expression.
Aya Saleh, Nitzan Medina‐Itzhaki, Milena Chekov, Eden Gal‐Swisa, Roba Gabesh‐Wahabi, Inbar Savyon, Inna Naroditsky, Hilary A. Kenny, Basem Fares, Lina Korsensky, Einav Girsh, Liron Berger, Ruth Perets   +12 more
wiley   +1 more source