Results 121 to 130 of about 129,927 (262)

The Neurofibromatosis type 1:A dominantly inherited tumors-predisposing disorder

Open Medicine, 2009
Scalzone Maria, Coccia Paola, Ruggiero Antonio, Lazzareschi Ilaria, Mastrangelo Stefano, Riccardi Riccardo   +5 more
doaj   +1 more source

Monilethrix, a rare inherited hair shaft disorder in siblings

Indian Dermatology Online Journal, 2014
Rita V Vora, Gopikrishnan Anjaneyan, Malay J Mehta   +2 more
doaj   +1 more source

ADP‐ribosylation: An emerging regulator of the epigenome

Molecular Oncology, EarlyView.
ADP‐ribosylation has emerged as a dynamic epigenetic signaling mechanism that modifies histones and chromatin‐associated proteins. Through coordinated PARylation and MARylation, it integrates with other histone modifications to regulate chromatin structure, transcription factor activity, and gene expression, influencing genome function and disease ...
Cristel V. Camacho, Chenqian Liu, W. Lee Kraus   +2 more
wiley   +1 more source

A Hematologic Masquerader: Progressive Familial Intrahepatic Cholestasis Type 3 Presenting as Anemia, Hepatosplenomegaly, and Recurrent Bleeding in a Child. [PDF]

Clin Case Rep
Alwadei N.
europepmc   +1 more source

Arginine methylation as a regulatory ratchet in cancer: From substrate selection to malignant‐state stabilization

Molecular Oncology, EarlyView.
Arginine methylation can be viewed as a persistence‐prone post‐translational modification regulated by a network of PRMTs. Competitive and compensatory interactions among PRMTs can redistribute methylation across substrate pools shaped by sequence, structural, spatial, and environmental layers, reinforcing RNA‐processing, chromatin, and signaling ...
So Hyun Kwon, Ji Min Lee
wiley   +1 more source

Automated FRAP microscopy for high‐throughput analysis of protein dynamics in chromatin organization and transcription

FEBS Open Bio, EarlyView.
RoboMic is an automated confocal microscopy pipeline for high‐throughput functional imaging in living cells. Demonstrated with fluorescence recovery after photobleaching (FRAP), it integrates AI‐driven nuclear segmentation, ROI selection, bleaching, and analysis.
Selçuk Yavuz, Bart Geverts, Johan A. Slotman, Andrea Sacchetti, Stefan Prekovic, Martin E. van Royen, Adriaan B. Houtsmuller   +6 more
wiley   +1 more source

Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches. [PDF]

EBioMedicine
Pang C, Chui MM, Tang W, Kwong AK, Leung HYC, Fan SS, Kwok AW, Chan GC, Luk HM, Wong RM, Yang W, Lo IF, Fung CW, Tung JY, Liu AP, Yeung KS, Wong SS, Mak CC, Chung BH.   +18 more
europepmc   +1 more source

Establishing an assay to evaluate d‐amino acid oxidase enzyme kinetics and inhibition using WST‐8 redox dye

FEBS Open Bio, EarlyView.
This study investigated a novel WST‐8‐based assay for evaluating d‐Amino acid oxidase (DAO) inhibitors. We confirmed its effectiveness using known inhibitors and found that uremic toxins possess relatively weak inhibitory activity compared to existing drugs.
Kahoko Miyake, Yuki Enoki, Yuka Nakazawa, Kazuaki Taguchi, Kazuaki Matsumoto   +4 more
wiley   +1 more source

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population. [PDF]

Haemophilia
Batsuli G, Lewandowska MD, Lim MY, Tickle K, Baldwin MK, Bender R, Davila J, Hayes B, Jacobson-Kelly A, Kouides P, Lambert MP, Nataraj S, Sholzberg M, Sinha R, Al-Samkari H, Dunn AL.   +15 more
europepmc   +1 more source

Long‐term hippocampal alterations and cognitive impairment in a murine model of surgical sepsis

FEBS Open Bio, EarlyView.
Using a mouse model of surgical sepsis, we tested long‐term memory and analyzed the transcriptome of single cells isolated from the hippocampus. Survivor mice showed worse memory, loss of certain brain cell subpopulations, and abnormal immune cell activity—suggesting that post‐sepsis brain alterations may be linked to cognitive deficits.
Dong Seong Cho, Rebecca Schmitt, Aneesha Dasgupta, Alexandra Ducharme, Jason Doles   +4 more
wiley   +1 more source