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

Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2019

Maddirevula Sateesh, Alhebbi Hamoud, Alqahtani Awad, Algoufi Talal, Alsaif Hessa S, Ibrahim Niema, Abdulwahab Firdous, Barr Mohammed, Alzaidan Hamad, Almehaideb Ali, AlSasi Omai, Alhashem Amal, Hussaini Hussa Al-, Wali Sami, Alkuraya Fowzan S

Abstract excerpt

PURPOSE: Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized. METHODS: Exome sequencing and positional mapping in seven families with cholestatic liver disease and negative clinical testing for known disease genes. RESULTS: KIF12, which encodes a microtubule motor protein with a tentative role in cell polarity, was found to harbor three homozygous...

Read the complete abstract on PubMed

Topics

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

Share to Drug Transport and Resistance Mechanisms

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Liver Diseases and Immunity

Share to Pediatric Hepatobiliary Diseases and Treatments

Source

Identifiers

PMID: 30250217
DOI: 10.1038/s41436-018-0288-x

Genes

KIF12
LSR
PPM1F
USP53
ATP13A2
TJP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 25 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variantsPMID 30250217Read ↗

Diagnostic yield and novel candidate genes by exome sequencing in 166 children with intrahepatic cholestasisSemantic proximity Read ↗

What's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches.Semantic proximity Read ↗

Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.Semantic proximity Read ↗

Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.Semantic proximity Read ↗

Clinical Diversity and Outcomes of Progressive Familial Intrahepatic Cholestasis Diagnosed by Whole Genome Sequencing in Pakistani ChildrenSemantic proximity Read ↗

Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization.Semantic proximity Read ↗

Mapping of de novo mutations in primary biliary cholangitis to a disease-specific co-expression network underlying homeostasis and metabolism.Semantic proximity Read ↗

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation SequencingSemantic proximity Read ↗

Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase CholestasisSemantic proximity Read ↗

Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.Semantic proximity Read ↗

Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults.Semantic proximity Read ↗

The Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.Semantic proximity Read ↗

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