Splice Acceptor Site | List of Frontiers open access articles

Original Research

Published on 21 Aug 2019

A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases

in Primary Immunodeficiencies

Aravind K. Bandari
Babylakshmi Muthusamy
Sunil Bhat
Periyasamy Govindaraj
Pavithra Rajagopalan
Aparna Dalvi
Siddharth Shankar
Remya Raja
Kavita S. Reddy
Manisha Madkaikar

Frontiers in Immunology

doi 10.3389/fimmu.2019.01964

7,568 views
20 citations

Original Research

Published on 18 Aug 2023

Allele-specific quantification of human leukocyte antigen transcript isoforms by nanopore sequencing

in B Cell Biology

Andrew E. O. Hughes
Maureen C. Montgomery
Chang Liu
Eric T. Weimer

Frontiers in Immunology

doi 10.3389/fimmu.2023.1199618

4,595 views
5 citations

Original Research

Published on 04 Aug 2023

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

in Pediatric Endocrinology

Catarina I. Gonçalves
Josianne N. Carriço
Omneya M. Omar
Ebtesam Abdalla
Manuel C. Lemos

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1207425

3,040 views
10 citations

Original Research

Published on 09 Jan 2023

Identification of COL4A4 variants in Chinese patients with familial hematuria

in Genetics of Common and Rare Diseases

Yanan Gao
Lamei Yuan
Jinzhong Yuan
Yan Yang
Jiangang Wang
Yong Chen
Hao Zhang
Yinze Ai
Hao Deng

Frontiers in Genetics

doi 10.3389/fgene.2022.1064491

3,911 views
2 citations

Mini Review

Published on 09 Oct 2018

Circular RNAs as Therapeutic Agents and Targets

in Vascular Physiology

Lesca M. Holdt
Alexander Kohlmaier
Daniel Teupser

Frontiers in Physiology

doi 10.3389/fphys.2018.01262

28,446 views
186 citations

Original Research

Published on 25 May 2023

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

in Neurogenetics

Nazif Muhammad
Syeda Iqra Hussain
Zia Ur Rehman
Sher Alam Khan
Samin Jan
Niamatullah Khan
Muhammad Muzammal
Sumra Wajid Abbasi
Naseebullah Kakar
Zia Ur Rehman

Frontiers in Neurology

doi 10.3389/fneur.2023.1168307

6,807 views
8 citations

Case Report

Published on 13 Jun 2024

TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report

in Cardiovascular Genetics and Systems Medicine

Paul León
Paula Franco
Nicole Hinojosa
Kevin Torres
Andrés Moreano
Vanessa I. Romero

Frontiers in Cardiovascular Medicine

doi 10.3389/fcvm.2024.1387063

4,114 views
4 citations

Original Research

Published on 08 Oct 2019

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease

in Genetics of Common and Rare Diseases

Hui Wang
Qi Li
Zhen Zhang
Ping Xiao
Long Li
Qian Jiang

Frontiers in Genetics

doi 10.3389/fgene.2019.00924

7,706 views
16 citations

Original Research

Published on 29 Mar 2019

Identification of a Functional Non-coding Variant in the GABAA Receptor α2 Subunit of the C57BL/6J Mouse Reference Genome: Major Implications for Neuroscience Research

in Neurogenomics

Megan K. Mulligan
Timothy Abreo
Sarah M. Neuner
Cory Parks
Christine E. Watkins
M. Trevor Houseal
Thomas M. Shapaker
Michael Hook
Haiyan Tan
Xusheng Wang

Frontiers in Genetics

doi 10.3389/fgene.2019.00188

11,660 views
61 citations

Case Report

Published on 08 Jul 2021

Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient

in Pediatric Immunology

Francesca Conti
Arianna Catelli
Cristina Cifaldi
Lucia Leonardi
Rita Mulè
Marco Fusconi
Vittorio Stefoni
Maria Chiriaco
Beatrice Rivalta
Silvia Di Cesare

Frontiers in Pediatrics

doi 10.3389/fped.2021.702546

6,217 views
15 citations

Case Report

Published on 07 Feb 2020

Clonal Selection of a Novel Deleterious TP53 Somatic Mutation Discovered in ctDNA of a KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumor Resistant to Imatinib

in Pharmacogenetics and Pharmacogenomics

Chiara Dalle Fratte
Michela Guardascione
Elena De Mattia
Eugenio Borsatti
Roberta Boschetto
Angelo Farruggio
Vincenzo Canzonieri
Loredana Romanato
Rachele Borsatti
Sara Gagno

Frontiers in Pharmacology

doi 10.3389/fphar.2020.00036

5,152 views
12 citations

Case Report

Published on 08 May 2025

The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report

in Pediatric Nephrology

Dayan Wang
Xiaobing Li
Kaichao Cheng
Lanjin Zheng
Pengfei Yu
Panjian Lai

Frontiers in Pediatrics

doi 10.3389/fped.2025.1533638

2,104 views

Original Research

Published on 18 Jan 2023

Novel HYDIN variants associated with male infertility in two Chinese families

in Reproduction

Hui Yu
Xiao Shi
Zhongmei Shao
Hao Geng
Senzhao Guo
Kuokuo Li
Meng Gu
Chuan Xu
Yang Gao
Qing Tan

Frontiers in Endocrinology

doi 10.3389/fendo.2023.1118841

5,535 views
3 citations

Original Research

Published on 17 Jun 2021

A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair

in Primary Immunodeficiencies

Steven Strubbe
Marieke De Bruyne
Ulrich Pannicke
Elien Beyls
Bart Vandekerckhove
Georges Leclercq
Elfride De Baere
Victoria Bordon
Anne Vral
Klaus Schwarz

Frontiers in Immunology

doi 10.3389/fimmu.2021.674226

7,589 views
7 citations

Articles

A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases

Allele-specific quantification of human leukocyte antigen transcript isoforms by nanopore sequencing

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

Identification of COL4A4 variants in Chinese patients with familial hematuria

Circular RNAs as Therapeutic Agents and Targets

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

TTN novel splice variant in familial dilated cardiomyopathy and splice variants review: a case report

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease

Identification of a Functional Non-coding Variant in the GABAA Receptor α2 Subunit of the C57BL/6J Mouse Reference Genome: Major Implications for Neuroscience Research

Case Report: Hodgkin Lymphoma and Refractory Systemic Lupus Erythematosus Unveil Activated Phosphoinositide 3-Kinase-δ Syndrome 2 in an Adult Patient

Clonal Selection of a Novel Deleterious TP53 Somatic Mutation Discovered in ctDNA of a KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumor Resistant to Imatinib

The heterozygous mutation COL4A4 c.817-1G>A causes Alport syndrome in a Chinese family: a case report

Novel HYDIN variants associated with male infertility in two Chinese families

A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair