ArticleJournal of medical genetics2023
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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Who cites it
13 citing papers in PubMed, 25 citations in OpenAlex.
- ASTWAS: modeling alternative polyadenylation and SNP effects in kernel-driven TWAS reveal novel genetic associations for complex traits.Briefings in bioinformatics · 2026Article
- Autism Heterogeneity Related to Preterm Birth: Multi-Ancestry Results From the Simons Foundation Powering Autism Research for Knowledge Sample.Biological psychiatry global open science · 2026Article
- Identification of a RAB32-LRMDA-Commander membrane trafficking complex reveals the molecular mechanism of human oculocutaneous albinism type 7.Nature communications · 2025Article
- CCDC22 mutations that impair COMMD binding cause attenuated 3C/Ritscher-Schinzel syndrome.BMC medical genomics · 2025Article
- Impairment of DET1 causes neurological defects and lethality in mice and humans.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Assembly and fission of tubular carriers mediating protein sorting in endosomes.Nature reviews. Molecular cell biology · 2024Review
- Mechanism and regulation of cargo entry into the Commander endosomal recycling pathway.Nature communications · 2024Article
- Structural organization of the retriever-CCC endosomal recycling complex.Nature structural & molecular biology · 2024Article
- A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.Nature communications · 2023Article
- Recruitment of the SNX17-Retriever recycling pathway regulates synaptic function and plasticity.The Journal of cell biology · 2023Article
- Structural Organization of the Retriever-CCC Endosomal Recycling Complex.Research square · 2023Article
- Structural Organization of the Retriever-CCC Endosomal Recycling Complex.bioRxiv : the preprint server for biology · 2023Article
- Article
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 4 countries.
Funding
Abstract
purposeThe Retriever subunit
methodsWe report three new patients with biallelic
resultsIn addition to typical features of RSS, we confirmed hypercholesterolaemia, hypogammaglobulinaemia and intestinal lymphangiectasia as novel complications of VPS35L-associated RSS. The latter two complications as well as proteinuria have not been reported in patients with
conclusionVPS35L-associated RSS is a distinct clinical entity with diverse phenotype and severity, with a possible molecular mechanism of hypercholesterolaemia. These findings provide new insight into the essential and distinctive role of Retriever in human development.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.