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OpenAlex topic

Skin and Cellular Biology Research

This page lists works and academicians tagged with an OpenAlex topic. It is not a YÖKSİS primary or secondary field.

OpenAlex 1,240 works 10 author topics

Works

1,240 works

  1. The gene encoding gigaxonin a new member of the cytoskeletal BTB kelch repeat family is mutated in giant axonal neuropathy 2000
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 97.0%

    No abstract yet.

  2. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment 2005
    OpenAlex top 10% OpenAlex 93.8%

    Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, mol…

  3. Harlequin Ichthyosis 2011
    OpenAlex top 10% OpenAlex 96.7%

    OBJECTIVE: To assess the clinical outcomes of 45 cases of harlequin ichthyosis and review the underlying ABCA12 gene mutations in these patients. DESIGN: Multicenter, retrospective, questionnaire-based survey. SETTING: Dermatology research institute. PARTICIPANTS: Patients with harlequin ichthyosis for whom we had per…

  4. Diagnostic tests for rheumatoid arthritis: comparison of anti-cyclic citrullinated peptide antibodies, anti-keratin antibodies and IgM rheumatoid factors 2002
    OpenAlex top 10% OpenAlex 98.8%

    OBJECTIVES: To examine the value of anti-cyclic citrullinated peptide (anti-CCP) antibodies, anti-keratin antibodies (AKA) and immunoglobulin M rheumatoid factors (IgM RF) in discriminating between rheumatoid arthritis (RA) and other rheumatic diseases, and to determine whether the clinical manifestations or severity…

  5. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study 2021
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.2%

    No abstract yet.

  6. Long-term safety and efficacy of patisiran for hereditary transthyretin-mediated amyloidosis with polyneuropathy: 12-month results of an open-label extension study 2021
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.2%

    No abstract yet.

  7. The role of psychological factors in alopecia areata and the impact of the disease on the quality of life 2004
    YÖKSİS SJR Q2 JCR Q3 OpenAlex 82.5%

    BACKGROUND: The role of psychological factors in the pathogenesis of alopecia areata (AA) has long been the subject of debate. Numerous studies have provided controversial results. AIM: This case-control study was undertaken to determine the significance of stressful life events and other psychological factors in the…

  8. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.2%

    No abstract yet.

  9. Serum neurofilament light chain levels are increased in patients with a clinically isolated syndrome 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.9%

    BACKGROUND: Neurofilament light chain (NfL) represents a promising biomarker for axonal injury. We present the first exploratory study on serum NfL in patients with a clinically isolated syndrome (CIS) and healthy controls. METHODS: We investigated serum NfL levels in 100 patients with CIS with a short conversion inte…

  10. Serum neurofilament light chain levels are increased in patients with a clinically isolated syndrome 2016
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.9%

    BACKGROUND: Neurofilament light chain (NfL) represents a promising biomarker for axonal injury. We present the first exploratory study on serum NfL in patients with a clinically isolated syndrome (CIS) and healthy controls. METHODS: We investigated serum NfL levels in 100 patients with CIS with a short conversion inte…

  11. Loss of function mutations in ATP6V0A2 impair vesicular trafficking tropoelastin secretion and cell survival 2009
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 97.3%

    Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and developmental delay and redundant, inelastic skin, is caused by mutations in the a2 subunit of the vesicular ATPase H+-pump (ATP6V0A2). The goal of this study was to define the disease mechanisms that lead to connective tissue lesions in ARCL2. In…

  12. Loss of function mutations in ATP6V0A2 impair vesicular trafficking tropoelastin secretion and cell survival 2009
    YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 97.3%

    Autosomal recessive cutis laxa type 2 (ARCL2), a syndrome of growth and developmental delay and redundant, inelastic skin, is caused by mutations in the a2 subunit of the vesicular ATPase H+-pump (ATP6V0A2). The goal of this study was to define the disease mechanisms that lead to connective tissue lesions in ARCL2. In…

Academicians

10 academicians