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

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.

Molecular biology reports - 1 Jun 2024

Tasharrofi Behnoosh, Najafi Ali, Pourbakhtyaran Elham, Amirsalari Susan, Khan Golazin Shahbodagh, Ashrafi Mahmoud Reza, Tavasoli Ali Reza, Keramatipour Mohammad, Heidari Morteza

Abstract excerpt

BACKGROUND: NOTCH3 variants are known to be linked to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). However, some null NOTCH3 variants with homozygous inheritance cause neurological symptoms distinct from CADASIL. The aim of this study was to expand the clinical spectrum of this distinct condition and provide further evidence of its autosomal recessive...

Read the complete abstract on PubMed

Topics

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

Share to CADASIL
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genes, Recessive

Share to Homozygote

Share to Loss of Function Mutation

Share to Magnetic Resonance Imaging

Share to Receptor, Notch3

Source

Identifiers

PMID: 38824264
DOI: 10.1007/s11033-024-09560-z

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

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.PMID 38824264Read ↗

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.Semantic proximity Read ↗

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.Semantic proximity Read ↗

Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.Semantic proximity Read ↗

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathySemantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3.Semantic proximity Read ↗

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.Semantic proximity Read ↗

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisitedSemantic proximity Read ↗

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients.Semantic proximity Read ↗

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.Semantic proximity Read ↗

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