ArticleEuropean journal of human genetics : EJHG2015
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02862834 (Towards an Improvement in Diagnosis and Genetic Counselling in Syndromic Poikiloderma), which is not on this map. Cited by 24 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Towards an Improvement in Diagnosis and Genetic Counselling in Syndromic Poikiloderma
Who cites it
24 citing papers in PubMed, 55 citations in OpenAlex.
- SASH1 as a Context-Dependent Multi-Docking Scaffold Linking Receptor Signaling to Cytoskeletal Dynamics.International journal of molecular sciences · 2026Review
- Dyschromatosis universalis hereditaria withSkin health and disease · 2025Review
- SASH1 S519N Variant Links Skin Hyperpigmentation and Premature Hair Graying to Dysfunction of Melanocyte Lineage.The Journal of investigative dermatology · 2025Article
- Gastric cancer cell-derived exosomal miRNA-128-3p promotes angiogenesis by targeting SASH1.Frontiers in oncology · 2024Article
- The Structural Dynamics, Complexity of Interactions, and Functions in Cancer of Multi-SAM Containing Proteins.Cancers · 2023Review
- Solution NMR backbone assignment of the SASH1 SLy proteins associated disordered region (SPIDER).Biomolecular NMR assignments · 2023Article
- The PER3Journal of molecular medicine (Berlin, Germany) · 2023Article
- SAM1 domain of SASH1 harbors distinctive structural heterogeneity.Journal of structural biology · 2022Article
- Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria.BMC medical genomics · 2021Article
- Two novel SASH1 mutations in Chinese families with dyschromatosis universalis hereditaria.Journal of clinical laboratory analysis · 2021Article
- Sarcoptic mange severity is associated with reduced genomic variation and evidence of selection in Yellowstone National Park wolves (Evolutionary applications · 2021Article
- SASH1 is a prognostic indicator and potential therapeutic target in non-small cell lung cancer.Scientific reports · 2020Article
- Mutated SASH1 promotes Mitf expression in a heterozygous mutated SASH1 knock‑in mouse model.International journal of molecular medicine · 2020Article
- AGenes · 2020Article
- SASH1 promotes melanin synthesis and migration via suppression of TGF-β1 secretion in melanocytes resulting in pathologic hyperpigmentation.International journal of biological sciences · 2020Article
- Identification of a Novel Mutation inFrontiers in genetics · 2020Article
- SASH1 Suppresses the Proliferation and Invasion of Human Skin Squamous Cell Carcinoma Cells via Inhibiting Akt Cascade.OncoTargets and therapy · 2020Article
- The Tumor Suppressor SASH1 Interacts With the Signal Adaptor CRKL to Inhibit Epithelial-Mesenchymal Transition and Metastasis in Colorectal Cancer.Cellular and molecular gastroenterology and hepatology · 2019Article
- p53 regulates ERK1/2/CREB cascade via a novel SASH1/MAP2K2 crosstalk to induce hyperpigmentation.Journal of cellular and molecular medicine · 2017Article
- A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation.Journal of cellular and molecular medicine · 2017Article
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1 variants are known to cause autosomal-dominant dyschromatosis. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous Moroccan family with two affected siblings presenting an unclassified phenotype associating an abnormal pigmentation pattern (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), alopecia, palmoplantar keratoderma, ungueal dystrophy and recurrent spinocellular carcinoma. We identified a homozygous variant in SASH1 (c.1849G>A; p.Glu617Lys) in both affected individuals. Wound-healing assay showed that the patient's fibroblasts were better able than control fibroblasts to migrate. Following the identification of SASH1 heterozygous variants in dyschromatosis, we used reverse phenotyping to show that autosomal-recessive variants of this gene could be responsible for an overlapping but more complex phenotype that affected skin appendages. SASH1 should be added to the list of genes responsible for autosomal-dominant and -recessive genodermatosis, with no phenotype in heterozygous patients in the recessive form, and to the list of genes responsible for a predisposition to skin cancer.
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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.