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

Variants in ALX4 and their association with genitourinary defects.

Andrology - 1 Sept 2020

Chen Ching H, Bournat Juan C, Wilken Nathan, Rosenfeld Jill A, Zhang Jason, Seth Abhishek, Jorgez Carolina J

Abstract excerpt

BACKGROUND: Genitourinary anomalies occur in approximately 1% of humans, but in most cases, the cause is unknown. Aristaless-like homeobox 4 (ALX4) is an important homeodomain transcription factor. ALX4 mutations in humans and mouse have been associated with craniofacial defects and genitourinary anomalies such as cryptorchidism and epispadias. OBJECTIVES: To investigate the presence and the functional impact of...

Read the complete abstract on PubMed

Topics

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

Share to DNA-Binding Proteins
Share to Genetic Variation
Share to HEK293 Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HeLa Cells

Share to Transcription Factors

Share to Urogenital Abnormalities

Source

Open in PubMed Open full text

Identifiers

PMID: 32385972
DOI: 10.1111/andr.12815
PMCID: PMC10318892

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants in ALX4 and their association with genitourinary defects.PMID 32385972Read ↗

A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay.Semantic proximity Read ↗

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary TractSemantic proximity Read ↗

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.Semantic proximity Read ↗

Critical genes in genitourinary embryogenesis are related to the development of adult hydrocele.Semantic proximity Read ↗

Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina.Semantic proximity Read ↗

DLX4is associated with orofacial clefting and abnormal jaw developmentSemantic proximity Read ↗

The Genomic Architecture of Bladder Exstrophy Epispadias Complex.Semantic proximity Read ↗

Renal agenesis, associated genital malformations, and responsible genesSemantic proximity Read ↗

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.Semantic proximity Read ↗

Genome-wide association analyses identify variants in developmental genes associated with hypospadias.Semantic proximity Read ↗

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.Semantic proximity Read ↗

Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial PhenotypesSemantic proximity Read ↗

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