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      Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation

      research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation

      February 2016 in “ˆThe ‰journal of allergy and clinical immunology/Journal of allergy and clinical immunology/˜The œjournal of allergy and clinical immunology”
      This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.

      research Ectodermal Dysplasia: Variable Expressions

      November 2025 in “Indian Journal of Dermatology”
      This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.
      Inherited Disorders of the Hair

      research Inherited Disorders of the Hair

      2 citations , January 2013 in “Elsevier eBooks”
      The document explains the genetic causes and characteristics of inherited hair disorders.
      Secondary Cicatricial and Other Permanent Alopecias

      research Secondary cicatricial and other permanent alopecias

      20 citations , July 2008 in “Dermatologic Therapy”
      This review discusses various nonfollicular scalp conditions causing secondary scarring or permanent alopecia and highlights the importance of specific diagnoses and treatments but reports no new results.

      research Olmsted syndrome

      2 citations , June 2013 in “Journal of Dermatological Case Reports”
      This article presents a case of Olmsted syndrome in a 5-year-old boy, adding to the limited number of reported cases of this rare keratinization disorder.
      Trichothiodystrophy: Case Report

      research Tricotiodistrofia. Reporte de un caso

      January 2007 in “Revista del Centro Dermatológico Pascua”
      This case report describes a 2-year-old boy diagnosed with trichothiodystrophy, characterized by fragile hair, intellectual damage, diminished fertility, and short stature.
      Genetic Basis of Skin Appendage Development

      research Genetic basis of skin appendage development

      111 citations , January 2007 in “Seminars in cell & developmental biology”
      This article reviews the similarities in early development processes of hair follicles, teeth, and mammary glands and reports no new experimental findings.
      Biology and Genetics of Hair

      research Biology and Genetics of Hair

      89 citations , September 2010 in “Annual Review of Genomics and Human Genetics”
      This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
      The Genetics of Hair Shaft Disorders

      research The genetics of hair shaft disorders

      59 citations , June 2008 in “Journal of The American Academy of Dermatology”
      This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.
      P63: A Crucial Player In Epithelial Stemness Regulation

      research p63: a crucial player in epithelial stemness regulation

      54 citations , October 2023 in “Oncogene”
      In this review, the researchers detailed how the p63 transcription factor influences epithelial stem cell activities such as self-renewal, differentiation, and proliferation, highlighting the role of TAp63 and ΔNp63 isoforms in both normal tissue development and cancer pathogenesis.
      Hair Shaft Abnormalities: Clues to Diagnosis and Treatment

      research Hair Shaft Abnormalities – Clues to Diagnosis and Treatment

      44 citations , January 2005 in “Dermatology”
      This article reviews the clinical and diagnostic features of hair shaft disorders, emphasizing the role of structured patient assessments and the avoidance of hair trauma, but reports no new results.
      To Grow or Not to Grow: Hair Morphogenesis and Human Genetic Hair Disorders

      research To grow or not to grow: Hair morphogenesis and human genetic hair disorders

      43 citations , December 2013 in “Seminars in Cell & Developmental Biology”
      This mini-review discusses human hair follicle development and summarizes genetic disorders linked to abnormalities in hair follicle morphogenesis, structure, or regeneration, but reports no new experimental results.
      Congenital Hair Loss Disorders: Rare, But Not Too Rare

      research Congenital hair loss disorders: Rare, but not too rare

      41 citations , November 2011 in “The Journal of Dermatology”
      This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
      Loose Anagen Hair Syndrome

      research Loose anagen hair syndrome

      40 citations , January 2010 in “International Journal of Trichology”
      This review discusses the diagnostic criteria and guidelines for managing loose anagen syndrome and differentiating it from non-scarring alopecias, but it reports no new clinical results.
      Ectodermal Dysplasia: Otolaryngologic Manifestations and Management

      research Ectodermal Dysplasia: Otolaryngologic Manifestations and Management

      37 citations , June 2002 in “˜The œLaryngoscope”
      This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
      Skin and Hair: Models for Exploring Organ Regeneration

      research Skin and hair: models for exploring organ regeneration

      35 citations , April 2008 in “Human Molecular Genetics”
      This review discusses advances in using molecular tools from skin biology to manipulate adult stem cells for regenerative medicine and reports no new clinical results.
      Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

      research Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

      26 citations , December 2011 in “Journal of Investigative Dermatology”
      This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
      Congenital Atrichia and Hypotrichosis

      research Congenital atrichia and hypotrichosis

      11 citations , May 2011 in “World Journal of Pediatrics”
      The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
      Molecular Genetics of Alopecias

      research Molecular Genetics of Alopecias

      9 citations , January 2015 in “Current problems in dermatology”
      This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.