ArticleAmerican journal of human genetics2000
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 131 citations in OpenAlex.
- Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review.Frontiers in immunology · 2022Pooled it
- Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.International journal of molecular sciences · 2025Article
- Article
- Netherton syndrome in a Bulgarian patient : Presentation of a case and an update of therapeutic options.Wiener medizinische Wochenschrift (1946) · 2023Article
- Heme Oxygenase-1 Is Upregulated during Differentiation of Keratinocytes but Its Expression Is Dispensable for Cornification of Murine Epidermis.Journal of developmental biology · 2023Article
- A novel SPINK5 donor splice site variant in a child with Netherton syndrome.Molecular genetics & genomic medicine · 2021Article
- Human Tissue Kallikreins-Related Peptidases Are Targets for the Treatment of Skin Desquamation Diseases.Frontiers in medicine · 2021Review
- A Case Report on Netherton Syndrome.Cureus · 2020Article
- Genetic activation of Nrf2 reduces cutaneous symptoms in a murine model of Netherton syndrome.Disease models & mechanisms · 2020Article
- Genetic Signature of Acute Lymphoblastic Leukemia and Netherton Syndrome Co-incidence-First Report in the Literature.Frontiers in oncology · 2019Article
- Netherton Syndrome: A Genotype-Phenotype Review.Molecular diagnosis & therapy · 2017Review
- Patterns of Allergic Sensitization in High IgE Syndromes.Current allergy and asthma reports · 2015Review
- Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities.The Journal of allergy and clinical immunology · 2014Article
- Netherton syndrome with pili torti.International journal of trichology · 2013Article
- Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.Journal of assisted reproduction and genetics · 2011Review
- Membrane-anchored serine proteases in vertebrate cell and developmental biology.Annual review of cell and developmental biology · 2011Review
- Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.Molecular vision · 2010Article
- Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome.Nature genetics · 2010Article
- Trichoscopy in genetic hair shaft abnormalities.Journal of dermatological case reports · 2008Article
- [Associated diseases and differential diagnostic considerations in childhood atopic eczema].Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete · 2007Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 2 countries.
Funding
Abstract
Netherton syndrome (NS [MIM 256500]) is a rare and severe autosomal recessive disorder characterized by congenital ichthyosis, a specific hair-shaft defect (trichorrhexis invaginata), and atopic manifestations. Infants with this syndrome often fail to thrive; life-threatening complications result in high postnatal mortality. We report the assignment of the NS gene to chromosome 5q32, by linkage analysis and homozygosity mapping in 20 families affected with NS. Significant evidence for linkage (maximum multipoint LOD score 10.11) between markers D5S2017 and D5S413 was obtained, with no evidence for locus heterogeneity. Analysis of critical recombinants mapped the NS locus between markers D5S463 and D5S2013, within an <3.5-cM genetic interval. The NS locus is telomeric to the cytokine gene cluster in 5q31. The five known genes encoding casein kinase Ialpha, the alpha subunit of retinal rod cGMP phosphodiesterase, the regulator of mitotic-spindle assembly, adrenergic receptor beta2, and the diastrophic dysplasia sulfate-transporter gene, as well as the 38 expressed-sequence tags mapped within the critical region, are not obvious candidates. Our study is the first step toward the positional cloning of the NS gene. This finding promises a better understanding of the molecular mechanisms that control epidermal differentiation and immunity.
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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.