Results 211 to 220 of about 102,585 (258)

Pathogenic Variants in the PRKRA Gene Can Result in a Rapid‐Onset Dystonia‐Parkinsonism‐like Phenotype

Movement Disorders, EarlyView.
Maeve Bradley, Senan Maher, Christian Espinoza‐Vinces, Kathleen Gorman, Tim Lynch, Richard A. Walsh, Alberto J. Espay, Conor Fearon   +7 more
wiley   +1 more source

Aberrant alternative splicing of purinergic receptor P2RX4 prevents sensitivity towards combinatorial treatment in colorectal and pancreatic cancer

The Journal of Pathology, EarlyView.
Abstract Recently, we suggested the combination of chemotherapy and P2RX4 inhibition as a promising novel therapeutic approach for P2RX4‐expressing epithelial tumors to prevent paracrine resistance. Here, we aimed to assess whether determining P2RX4 expression status in colorectal and pancreatic cancer patients would allow stratification of potentially
Christoph Steup, Julian Dosch, Christopher Dietz‐Fricke, Sara Khosraviseftejani, Esther Engel, Adalbert F de Valk, Dominic Menger, Patrick Welker, Peter J Wild, Kilian B Kennel, Maja Kantlehner, Paul K Ziegler, Florian R Greten   +12 more
wiley   +1 more source

Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity. [PDF]

Front Genet
Kim Lien NT, Van Tung N, Minh Huong LT, Van Anh NT, Phuong Mai NT, Dien TM, Hien NT, Tao NT, Hoang NH.   +8 more
europepmc   +1 more source

Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study. [PDF]

iScience
Suseelan V, Krishna A A, Zawar A, Prabhu PS, Bhatta P, Paliwal A, Mathur P, Medicherla KM, Polipalli SK, Suravajhala P.   +9 more
europepmc   +1 more source

Collaborative Genomics for Dystonia in Central and Eastern Europe: Successes Achieved, New Frontiers Ahead

Movement Disorders, EarlyView.
Robert Jech, Petra Havránková, Eugenia Tsoma, Lukáš Kunc, Tomáš Krajča, Ján Necpál, Olga Ulmanová, Aleksandra Tomic, Ivana Dzinovic, Irena Rektorová, Marek Baláž, Tereza Serranová, Stanislava Jaselska, Maria Giertlova, Kristina Kulcsarova, Alexandra Lackova, Denisa Harvanova, Miriam Ostrozovicova, Vladimir Han, GenDy Collaborators, Matej Škorvánek, Michael Zech   +21 more
wiley   +1 more source

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach. [PDF]

J Diabetes Res
Sefid F, Dehghan Tezerjani M, Asadollahi S, Madani SA, Pardal T, Imani M, Salmani Z, Rahmanian M, Hozhabri H, Kalantar SM, Vahidi Mehrjardi MY.   +10 more
europepmc   +1 more source

Genetic Causes and Ankle Instability in Hypermobile Ehlers-Danlos Syndrome (hEDS): An Integrated Analysis Using Whole-Exome Sequencing and Stress Imaging. [PDF]

J Clin Med
Kim JY, Lee HY, Kim SY, Lee SW, Cho M, Shin JW, Yoon YG, Lee J, Kang YE, Kang DH, Jo SK, Kang C, Kim N, Song JH.   +13 more
europepmc   +1 more source

Caught by Whole-Exome Sequencing: Hemoglobin Sun Prairie in a Patient With Unexplained Hemolytic Anemia From Nepal. [PDF]

Case Rep Hematol
Upadhaya P, Shrestha A.
europepmc   +1 more source

A Whole-Exome Sequencing-Based Exploration of Chronic Kidney Disease of Unknown Etiology (CKDu) in an Endemic Population in Sri Lanka. [PDF]

Int J Mol Sci
Tom W, Weerakoon C, Fernando N, Hasantha I, Bandara M, Krzyzanowski G, Nanayakkara S, Cosgrove D, Nanayakkara N, Fernando MR.   +9 more
europepmc   +1 more source