Results 121 to 130 of about 712,245 (264)

Genetics in the Medical Curriculum

Academic Medicine, 1946
G G, ROBERTSON, J C, HALEY
openaire   +3 more sources

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort. [PDF]

Genet Med
Matalon DR, Duker AL, Arriaga TM, Russell K, Mendez HR, Bonner DE, Harley ME, Singer-Berk M, Wojcik MH, Pais L, DiTroia S, O'Leary M, Cassini T, Ezell K, Niehaus AD, Kaplan J, Wargowski DS, Smid CJ, Longenecker ED, Rodriguez Barreto AM, Miller DE, Keefe AC, Calderwood L, Enns GM, Tekin M, Bivona SA, Vora NL, Gilmore KL, Khan TN, Davis EE, Wang AW, Khan S, Maddirevula S, Al Abdi L, Abuyousef O, Shamseldin HE, Alkhalifi S, Abdulwahab F, Alqahtani M, Alhumaidi ZA, Nadeef S, Al Hashem AM, Bakur K, Faqeih EA, Abdalla E, Clarke A, Fletcher E, Keng WT, Ousager LB, de Silva DC, Haniffa M, Mari F, Lam W, Campbell J, Homfray T, Nampoothiri S, Li C, Chaudhari BP, Truxal K, Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Undiagnosed Diseases Network, Bernstein JA, Montgomery SB, Wheeler MT, Alkuraya FS, O'Donnell-Luria A, Jackson AP, Campbell IM, Ganesh VS, Robertson N, Lemire G.   +70 more
europepmc   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Correction: Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures. [PDF]

Clin Epigenetics
Koparir A, Kerkhof J, Rzasa J, Metzger E, Carbajal PB, Kolokotronis K, Koparir E, Jelting Y, Hofrichter MAH, Klepper J, König T, Runkel E, Prastyo WE, Deinlein J, Babic ND, Spiegler J, Stachelscheid N, Kunstmann E, Haaf T, Sadikovic B, Klopocki E.   +20 more
europepmc   +1 more source

The human gut microbiome across the life course

FEBS Letters, EarlyView.
Despite significant individual variation and continuous change throughout life, the human gut microbiome follows some life stage‐specific trends. This article provides a brief overview of how gut microbiome composition shifts across different phases of life. Created in BioRender. Özkurt, E. (2026) https://BioRender.com/8q4nrnc.
Alise J. Ponsero, Basak Bahcivanci, Antonietta Hayhoe, Animesh Acharjee, Ezgi Özkurt   +4 more
wiley   +1 more source

Correction: Clinical variant interpretation comparing two saturation genome editing-based functional studies for <i>BRCA2</i>. [PDF]

Front Genet
Shin JH, Park KS, Kim YG, Jang MA, Jang JH, Kim JW.   +5 more
europepmc   +1 more source

The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum. [PDF]

BMC Med Genomics, 2016
Gerhard GS, Jin Q, Paynton BV, Popoff SN.   +3 more
europepmc   +1 more source

Rab14 regulates the transport of human papillomavirus to the trans‐Golgi network for infectious cell entry

FEBS Letters, EarlyView.
This study reveals that the small GTPase Rab14 is necessary for human papillomavirus (HPV) infection and plays an essential role in the transport of virions to the trans‐Golgi network (TGN). HPV in the early endosome (EE), which harbors GTP‐bound Rab14, is transported to the TGN through the switch of Rab14 from its GTP‐bound to GDP‐bound form.
Yoshiyuki Ishii, Iwao Kukimoto
wiley   +1 more source

Correction: Prevalence, mutation distribution, and economic burden of thalassemia in China: a systematic review and regional analysis. [PDF]

Arch Public Health
Cai A, Liu X, Ma Q, He G, Jing C, He J, Zeng F, Zhu B.   +7 more
europepmc   +1 more source