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

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.

European journal of medical genetics - 1 Jan 2018

Nagara Majdi, Papagregoriou Gregory, Ben Abdallah Rim, Landoulsi Zied, Bouyacoub Yosra, Elouej Sahar, Kefi Rym, Pippucci Tommaso, Voskarides Konstantinos, Bashamboo Anu, McElreavey Kenneth, Hachicha Mongia, Romeo Giovanni, Seri Marco, Deltas Constantinos, Abdelhak Sonia

Abstract excerpt

AIM OF THE STUDY: Recent advances in understanding the underlying molecular mechanism for distal renal tubular acidosis (dRTA), led to an increased attention towards the primary and the familial forms of the disease. Mutations in ATP6V1B1 and ATP6V0A4 are usually responsible for the recessive form of the disease. Mutations in gene AE1 encoding the Cl-/HCO3- exchanger, usually present as dominant dRTA, but a...

Read the complete abstract on PubMed

Topics

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

Share to Acidosis, Renal Tubular
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Multifactorial Inheritance

Share to Mutation

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 29024829
DOI: 10.1016/j.ejmg.2017.10.002

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance.PMID 29024829Read ↗

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1genesSemantic proximity Read ↗

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.Semantic proximity Read ↗

Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.Semantic proximity Read ↗

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican familiesSemantic proximity Read ↗

ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.Semantic proximity Read ↗

Hereditary distal renal tubular acidosis: new understandings.Semantic proximity Read ↗

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.Semantic proximity Read ↗

Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.Semantic proximity Read ↗

Inherited renal tubular acidosis.Semantic proximity Read ↗

The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis.Semantic proximity Read ↗

Molecular Diagnosis and Identification of Genetic Variants Underlying Distal Renal Tubular Acidosis in Pakistani Patients Using Whole Exome Sequencing.Semantic proximity Read ↗

Bartter syndrome representing digenic-based salt-losing tubulopathies presumably accelerated by renal insufficiency.Semantic proximity Read ↗

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