Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.

International urogynecology journal - 1 Feb 2025

Sadakierska-Chudy Anna, Szymanowski Paweł, Szepieniec Wioletta Katarzyna, Boniewska-Bernacka Ewa, Pollak Agnieszka

Abstract excerpt

INTRODUCTION AND HYPOTHESIS: Pelvic floor dysfunction usually results in pelvic organ prolapse (POP) and/or urinary incontinence. In women, several factors, including pregnancy and vaginal delivery, can affect pelvic muscle conditions. The aim of the study was to perform a genetic analysis in young women with a family history of pelvic floor dysfunction to find potentially harmful variants or variants that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Exome Sequencing
Share to CLCN1 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to RYR1 gene

Share to Genetic Predisposition to Disease

Share to Ion Channels

Share to Pedigree

Share to Young Adult

Source

Identifiers

PMID: 39833541
DOI: 10.1007/s00192-025-06048-7

Genes

CLCN1
MUSK
ATP1A4
FKBP14
GRIN2C
ORAI1
PIEZO1
RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole Exome Sequencing Reveals Candidate Variants in Ion Channel Genes for Pelvic Muscle Dysfunction in Young Females with a Family History.PMID 39833541Read ↗

Genetics of Female Pelvic Organ Prolapse: Up to Date.Semantic proximity Read ↗

Exome sequencing identifies a novel gene, WNK1, for susceptibility to pelvic organ prolapse (POP).Semantic proximity Read ↗

Improving genetic diagnostics of skeletal muscle channelopathies.Semantic proximity Read ↗

Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3.Semantic proximity Read ↗

Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.Semantic proximity Read ↗

Novel pathogenic variants and genes for myopathies identified by whole exome sequencingSemantic proximity Read ↗

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency.Semantic proximity Read ↗

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.Semantic proximity Read ↗

New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing.Semantic proximity Read ↗

Identification of gene variants in 130 Han Chinese patients with hypospadias by targeted next‐generation sequencingSemantic proximity Read ↗

Whole exome and targeted sequencing reveal novel mutations associated with inherited PCOS condition in an Indian cohort.Semantic proximity Read ↗

Whole exome sequencing identifies a novel homozygous missense mutation of LHCGR gene in primary infertile women with empty follicle syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.