Mutational spectrum of NSDHL in CHILD syndrome

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Journal of Medical Genetics

• Publication date

  2005-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.2004.024448PMID 15689440PMCID PMC1735983
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Genetic mapping of the X-linked dominant mutations striated (Str) and bare patches (Bpa) to a 600-kb region of the mouse X Chromosome: implications for mapping human disorders in Xq28

  2004cited by this paper
• Localization of Mammalian NAD(P)H Steroid Dehydrogenase-like Protein on Lipid Droplets*

  2003cited by this paper
• NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

  2003cited by this paper
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  2003cited by this paper
• A unique point mutation in the NSDHL gene in a Japanese patient with CHILD syndrome.

  2003cited by this paper
• Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.

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• Left‐sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene

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• Palmoplantar pustulosis: a clinicoepidemiological study. The relationship between tobacco use and thyroid function

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• A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.

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• Un nuevo caso de síndrome CHILD diagnosticado previamente como nevo epidérmico verrugoso inflamatorio lineal (NEVIL)

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• CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase.

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• Measurement of locus copy number by hybridisation with amplifiable probes.

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• Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.

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• Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.

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• Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata

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• Experiência de longo prazo no tratamento dos nevos CHILD utilizando colesterol e estatinas tópicas

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• Long follow-up treating CHILD nevi with topical cholesterol and statins

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• Colonic xanthomas in an adult with skeletal anomalies and dyslipidemia: Colonoscopic findings of NSDHL-related CHILD syndrome due to NSDHL haploinsufficiency.

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• Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.

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• Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

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• Musculoskeletal abnormalities and a novel genomic variant in an adult patient with CHILD syndrome: a case report.

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• Epidermal Nevi: What Is New.

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• Sterol Biosynthesis Inhibition in Pregnant Women Taking Prescription Medications.

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• A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement

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• MondoA regulates gene expression in cholesterol biosynthesis-associated pathways required for zebrafish epiboly

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• Genetic Variability in Cholesterol Metabolism

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• Role of Metabolism in Bone Development and Homeostasis

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• Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome

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• Zebrafish models of skeletal dysplasia induced by cholesterol biosynthesis deficiency

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• NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi

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• Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report

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• Human Cholesterol Biosynthesis Defects

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• A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.

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• Mendelian Disorders of Cornification (MEDOC)

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• Congenital hemidysplasia with ichthyosiform erythroderma and limb defects – A rare entity

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• CHILD syndrome

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• Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.

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• Mild clinical presentation of a patient with a mutation in the NSDHL gene

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• CHILD syndrome: A modified pathogenesis‐targeted therapeutic approach

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• Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.

  2018cites this paper
• Not lost to follow-up: A rare case of CHILD syndrome in a boy reappears

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• NSDHL MUTATIONS ASSOCIATED WITH CHILD SYNDROME IDENTIFIED IN ORAL VERRUCIFORM XANTHOMA

  2018influential citation
• A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis

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• A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder

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  2015cites this paper
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  2015cites this paper
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  2015cites this paper
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  2014cites this paper
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• A in

  year unknowncites this paper