Results 71 to 80 of about 13,128 (181)

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

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

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

Genomic convergence and network analysis approach to identify candidate genes in Alzheimer's disease [PDF]

, 2014
BACKGROUND: Alzheimer’s disease (AD) is one of the leading genetically complex and heterogeneous disorder that is influenced by both genetic and environmental factors. The underlying risk factors remain largely unclear for this heterogeneous disorder. In
Meenal Gupta, Puneet Talwar, Rachna Agarwal, Ritushree Kukreti, Sandeep Grover, Suman Kushwaha, Yumnam Silla   +6 more
core   +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

Last rolls of the yoyo: Assessing the human canonical protein count [version 1; referees: 1 approved, 2 approved with reservations]

F1000Research, 2017
In 2004, when the protein estimate from the finished human genome was only 24,000, the surprise was compounded as reviewed estimates fell to 19,000 by 2014. However, variability in the total canonical protein counts (i.e.
Christopher Southan
doaj   +1 more source

Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily [PDF]

, 2011
We present the BPIFAn/BPIFBn systematic nomenclature for the PLUNC (palate lung and nasal epithelium clone)/PSP (parotid secretory protein)/BSP30 (bovine salivary protein 30)/SMGB (submandibular gland protein B) family of proteins, based on an adaptation
Ball, Bingle, Bingle, Bingle, C. Jeremy Craven, Chiang, Colin D. Bingle, Dear, Egland, Gautron, Inagawa, Khew-Goodall, Larkin, LeClair, Letunic, Madsen, McDonald, Mirels, Mulero, Rajan, Ruth L. Seal, Waterhouse, Weston, Wheeler, Wheeler, Yan   +25 more
core   +1 more source

Physiological and anatomical determinants of placental drug transfer

The Journal of Physiology, EarlyView.
Abstract figure legend Fetal exposure to pharmaceuticals and their subsequent clearance back to the maternal circulation are governed by placental transfer. Passive diffusion down a maternal‐to‐fetal concentration gradient is the primary route of fetal drug exposure, with specific compounds undergoing transporter‐mediated transfer.
Rohan M. Lewis, Anandita Umapathy, Jane K. Cleal, Bram G. Sengers   +3 more
wiley   +1 more source

Molecular Signaling and Dysfunction of the Human Reactive Enteric Glial Cell Phenotype: Implications for GI Infection, IBD, POI, Neurological, Motility, and GI Disorders [PDF]

, 2016
BACKGROUND: Clinical observations or animal studies implicate enteric glial cells in motility disorders, irritable bowel syndrome, inflammatory bowel disease, gastrointestinal (GI) infections, postoperative ileus, and slow transit constipation ...
Abdel Rasoul, Mahmoud, Arsenescu, Razvan, Christofi, Fievos L., CUOMO, ROSARIO, Fadda, Paolo, Grants, Iveta, Harzman, Alan, Liñán Rico, Andromeda, Needleman, Bradley J, Ochoa Cortes, Fernando, TURCO, FABIO, Whitaker, Emmett   +11 more
core   +1 more source

Single Cell RNA Transcriptomics of Mantle Cell Lymphoma Reveals the Presence of Treatment‐Resistant Subclones at the Time of Diagnosis

American Journal of Hematology, Volume 101, Issue 5, Page 1025-1035, May 2026.
ABSTRACT Mantle cell lymphoma (MCL) is a B‐cell malignancy with a chronically relapsing clinical course and pronounced genetic heterogeneity. To investigate the clonal dynamics underlying early disease relapse, we performed single‐cell RNA sequencing of paired tumor samples collected at diagnosis and at first relapse. Inference of copy number variants (
Dmitry Manakov, Magdalena Klanova, Michal Kolar, Robert Ivanek, Florian Geier, Julien Roux, Tomas Zikmund, Lucie Winkowska, Eva Kriegova, Jirina Manakova, Liliana Tuskova, Silvia Spanikova, Alexandra Scasna, Marek Trneny, Pavel Klener   +14 more
wiley   +1 more source