Results 31 to 40 of about 145 (101)

A standardized nomenclature for mammalian histone genes

Epigenetics & Chromatin, 2022
Histones have a long history of research in a wide range of species, leaving a legacy of complex nomenclature in the literature. Community-led discussions at the EMBO Workshop on Histone Variants in 2011 resulted in agreement amongst experts on a revised
Ruth L. Seal, Paul Denny, Elspeth A. Bruford, Anna K. Gribkova, David Landsman, William F. Marzluff, Monica McAndrews, Anna R. Panchenko, Alexey K. Shaytan, Paul B. Talbert   +9 more
doaj   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Testican‐1‐MMP axis in tumour extracellular matrix (ECM) remodelling: interaction dynamics analysis and an in silico perspective

The Journal of Pathology, EarlyView.
Abstract The extracellular matrix (ECM) plays a pivotal role in facilitating tumour development, invasiveness, metastasis, and immunoevasive processes through dynamic ECM remodelling processes. Testican‐1 (SPOCK1), an excretory matricellular proteoglycan, is suggested to exert a role in the facilitation of ECM remodelling processes through interacting ...
Sepideh Youssefi, Kiarash Saleki, Prerna Kadam, Amirreza Mazloomi, Abhik Mukherjee, Lodewijk V Dekker, Abdolrahman S Nateri   +6 more
wiley   +1 more source

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1

Stem Cell Research, 2017
Fibroblasts from a female patient carrying a heterozygous variation in GTP cyclohydrolase 1 (GCH1; OMIM: 600225; HGNC: 4193; c.235_240del/p.(L79_S80del)), the rate-limiting enzyme of tetrahydrobiopterin (BH4) synthesis, were reprogrammed to iPSCs using ...
Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen   +4 more
doaj   +1 more source

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

Frontiers in Genetics, 2022
Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700).
Xiaojing He, Qingya Ma, Qiaoli Zhang, Qiaoli Zhang, Xutao Hong, Xutao Hong, Ming Qi, Ming Qi, Yongkai Li, Xiaodong Li   +9 more
doaj   +1 more source

Proteomic Changes in Cancer Cell Lines as a Result of Bacterial Infection

PROTEOMICS, EarlyView.
ABSTRACT Bacterial infections have been implicated in shaping the tumor microenvironment (TME), but their effects on cancer cell proteomes remain unexplored. In this study, we analyzed proteomic changes in melanoma (A375) and ovarian cancer (OVCAR3) cell line models following infection with Staphylococcus aureus strain USA300 or Salmonella enterica ...
Bo Ren, Kenneth Weke, Darryl Hardie, Mariya I. Goncheva, Ted Hupp, Javier Antonio Alfaro, Helena Pětrošová, David R. Goodlett   +7 more
wiley   +1 more source

Effect of Flecainide on Multifocal Ectopic Purkinje-Related Premature Contractions in an R814W SCN5A Carrier

JACC: Case Reports
Multifocal ectopic Purkinje-related premature contraction (MEPPC) is an autosomal dominant SCN5A channelopathy characterized by frequent multiform premature ventricular contractions originating from the His-Purkinje system.
Hisham Ahamed, MD, DM, Arun Gopi, MD, DM
doaj   +1 more source

Revealing topics and their evolution in biomedical literature using Bio-DTM: a case study of ginseng

Chinese Medicine, 2017
Background Valuable scientific results on biomedicine are very rich, but they are widely scattered in the literature. Topic modeling enables researchers to discover themes from an unstructured collection of documents without any prior annotations or ...
Qian Chen, Ni Ai, Jie Liao, Xin Shao, Yufeng Liu, Xiaohui Fan   +5 more
doaj   +1 more source

Differential expression of zinc finger CCHC-type superfamily proteins in thyroid carcinoma and their associations with tumor immunity

Thyroid Research, 2023
Background The zinc-finger CCHC-type (ZCCHC) superfamily proteins are characterized by the shared sequence CX2-CX4-HX4-C and thought to own high affinity to single-stranded nucleic acids, particularly RNAs.
Yin Yin, Jing Chen, Qian Chen, Hongyan He, Nannan Zhu, Pengcheng Xia, Chunli Yu, Lingyun Meng   +7 more
doaj   +1 more source