Results 241 to 250 of about 5,512,004 (328)

A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF. [PDF]

Hum Genomics
Brownstein Z, Kamal L, Mishan-Montefiori S, Hoffman Y, Fine D, Hirsch Y, Weiden T, Birnbaum R, Mor-Shaked H, Davidov B, Yaron Y, Avraham KB.   +11 more
europepmc   +1 more source

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2019
Lora J. H. Bean, B. Funke, C. Carlston, J. Gannon, S. Kantarci, B. Krock, Shulin Zhang, P. Bayrak-Toydemir   +7 more
semanticscholar   +1 more source

Gut microbiota diversity is prognostic in metastatic hormone receptor‐positive breast cancer patients receiving chemotherapy and immunotherapy

Molecular Oncology, EarlyView.
In this exploratory study, we investigated the relationship between the gut microbiota and outcome in patients with metastatic hormone receptor‐positive breast cancer, treated in a randomized clinical trial with chemotherapy alone or chemotherapy in combination with immune checkpoint blockade.
Andreas Ullern, Kristian Holm, Nikolai Kragøe Andresen, Andreas Hagen Røssevold, Corinna Bang, Bjørn Naume, Johannes R. Hov, Jon Amund Kyte   +7 more
wiley   +1 more source

Correction: Identification and functional characteristics of a novel splice site variant in <i>L1CAM</i> caused X-linked hydrocephalus. [PDF]

Front Genet
Zhou S, Zhang H, Li X, Chen Q, Xu Z.
europepmc   +1 more source

Modeling hepatic fibrosis in TP53 knockout iPSC‐derived human liver organoids

Molecular Oncology, EarlyView.
This study developed iPSC‐derived human liver organoids with TP53 gene knockout to model human liver fibrosis. These organoids showed elevated myofibroblast activation, early disease markers, and advanced fibrotic hallmarks. The use of profibrotic differentiation medium further amplified the fibrotic signature seen in the organoids.
Mustafa Karabicici, Soheil Akbari, Ceyda Caliskan, Canan Celiker, Ozden Oz, Leman Binokay, Gökhan Karakulah, Serif Senturk, Esra Erdal   +8 more
wiley   +1 more source

Author Correction: Complex genetic variation in nearly complete human genomes. [PDF]

Nature
Logsdon GA, Ebert P, Audano PA, Loftus M, Porubsky D, Ebler J, Yilmaz F, Hallast P, Prodanov T, Yoo D, Paisie CA, Harvey WT, Zhao X, Martino GV, Henglin M, Munson KM, Rabbani K, Chin CS, Gu B, Ashraf H, Scholz S, Austine-Orimoloye O, Balachandran P, Bonder MJ, Cheng H, Chong Z, Crabtree J, Gerstein M, Guethlein LA, Hasenfeld P, Hickey G, Hoekzema K, Hunt SE, Jensen M, Jiang Y, Koren S, Kwon Y, Li C, Li H, Li J, Norman PJ, Oshima KK, Paten B, Phillippy AM, Pollock NR, Rausch T, Rautiainen M, Song Y, Söylev A, Sulovari A, Surapaneni L, Tsapalou V, Zhou W, Zhou Y, Zhu Q, Zody MC, Mills RE, Devine SE, Shi X, Talkowski ME, Chaisson MJP, Dilthey AT, Konkel MK, Korbel JO, Lee C, Beck CR, Eichler EE, Marschall T.   +67 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

PYCR1 inhibition in bone marrow stromal cells enhances bortezomib sensitivity in multiple myeloma cells by altering their metabolism

Molecular Oncology, EarlyView.
This study investigated how PYCR1 inhibition in bone marrow stromal cells (BMSCs) indirectly affects multiple myeloma (MM) cell metabolism and viability. Culturing MM cells in conditioned medium from PYCR1‐silenced BMSCs impaired oxidative phosphorylation and increased sensitivity to bortezomib.
Inge Oudaert, Lauren van den Broecke, Osman Aksoy, Judith Lind, Sonia Vallet, Arne Van der Vreken, Gamze Ates, Ann Massie, Ken Maes, Kim De Veirman, Elke De Bruyne, Karin Vanderkerken, Klaus Podar, Eline Menu   +13 more
wiley   +1 more source

Author Correction: Incorporating genetic data improves target trial emulations and informs the use of polygenic scores in randomized controlled trial design. [PDF]

Nat Genet
German J, Yang Z, Urbut S, Vartiainen P, FinnGen, Natarajan P, Patorno E, Kutalik Z, Philippakis A, Ganna A.   +9 more
europepmc   +1 more source

Multi‐omic profiling of squamous cell lung cancer identifies metabolites and related genes associated with squamous cell carcinoma

Molecular Oncology, EarlyView.
Using multi‐omic characterization, we aimed to identify key regulators specific to squamous cell lung carcinoma (SqCC). SqCC‐specific differentially expressed genes were integrated with metabolics data. High expression of the creatine transporter SLC6A8, along with elevated creatine levels, appeared to be a distinct metabolic feature of SqCC.
Johan Staaf, Daniel Ehinger, Hans Brunnström, Mats Jönsson, Frida Rosengren, Marija Kotevska, Anna Karlsson, Mattias Aine, Christian Frezza, Maria Planck, Elsa Arbajian   +10 more
wiley   +1 more source