8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
36 citations
,
January 2021 in “Scientific Reports” This study identified key genes and signaling pathways involved in the growth phases of Pashmina goat hair follicles, highlighting the role of several gene families and transcription factors in fiber quality and growth regulation.
19 citations
,
December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
4 citations
,
September 2004 in “Experimental Dermatology” This article reviews the role of epidermal proteins and their complex gene families in maintaining skin integrity and highlights insights gained from genetic studies and mouse models, without providing new clinical results.
21 citations
,
January 2023 in “International Journal of Molecular Sciences” This review discusses the role and interactions of the calcium-binding protein S100A6 in cellular processes and its association with various diseases, highlighting the need for further research to fully understand its biological impact.