April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the deletion of Med1 in dental epithelia causes a shift from dental to hair tissue development, suggesting the importance of Med1 in maintaining tissue-specific lineage.
July 2021 in “British Journal of Dermatology” This report describes a boy with ectodermal dysplasias who was genetically diagnosed due to newly discovered TSPEAR gene variants, which have now been associated with this condition.
August 2020 in “International Journal of Research in Dermatology” This report describes a 23-year-old male with Clouston’s syndrome, characterized by nail abnormalities, palmoplantar skin thickening, anodontia, and androgenic alopecia, highlighting the need for supportive management due to the lack of a definitive treatment.
This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.
November 2019 in “European journal of internal medicine” This report documents a case of Cronkhite-Canada Syndrome in a 56-year-old Laotian man, who successfully improved with vitamin supplementation and medical treatment after experiencing weight loss, alopecia, and gastrointestinal polyposis.
May 2017 in “InTech eBooks” This chapter reviews types and causes of hair loss in children and suggests a diagnostic approach for identifying and treating this condition, but it reports no new clinical results.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
June 1997 in “Australasian Journal of Dermatology” This article discusses hair and nail research contributions in dermatology but reports no new clinical findings.
August 2019 in “Journal of Investigative Dermatology” This study found that the desmosomal protein desmoplakin is crucial for proper epidermal morphogenesis and radial intercalation in developing Xenopus embryos, affecting keratin organization and ectodermal structures.
318 citations
,
October 1998 in “The Journal of Cell Biology” This study found that ectopic expression of the lymphoid-enhancer factor can induce K17 protein in the skin, suggesting a link between skin development and wound repair processes in mice.
50 citations
,
March 2001 in “Clinics in dermatology” This paper reviews the complex anatomy and development of human hair and emphasizes the need to understand these processes for interpreting drug incorporation into hair, with no new clinical results reported.
33 citations
,
June 2007 in “Gene Expression Patterns” This study found that CTIP2 is highly expressed in mouse skin during embryogenesis and adulthood, suggesting it may play a role in skin development and homeostasis.
19 citations
,
April 2015 in “International Journal of Molecular Sciences” This study identified distinct gene expression patterns in wool follicle bulbs that may play important roles in wool follicle cycling and regeneration in sheep.
19 citations
,
January 2015 in “Development” This study found that misexpression of Hoxc8 in mice led to ectopic mammary development and suggests Hox genes may play crucial roles in the regional specification and initiation of cutaneous accessory organs.
December 2025 in “Toxicologic Pathology” This study outlines the complex structure and various functions of the skin, emphasizing its role as a barrier against external insults, a sensory receptor, and its importance in vitamin D synthesis.
March 2016 in “Institutional Repositories DataBase (IRDB)” This study discusses the effects of collagen hydrolysates and the dipeptide Pro-Hyp on gene expression related to hair and epidermis development in mouse skin and reports no new clinical results.
71 citations
,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.
48 citations
,
January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.
43 citations
,
February 2013 in “Developmental dynamics” This study found that Eda and activin A regulate Foxi3 expression, which may contribute to the development of hypohidrotic ectodermal dysplasia by affecting Foxi3 activity in ectodermal appendages like hair and teeth.
39 citations
,
March 2022 in “Nature Protocols” This study describes a protocol for generating hair-bearing skin organoids from human pluripotent stem cells, achieving full complexity resembling fetal skin tissue by day 130 in vitro.
16 citations
,
January 2005 in “The International Journal of Developmental Biology” This study found that Hex gene expression patterns in chick embryo dorsal skin during feather bud development suggest a significant role in initiating feather morphogenesis.
14 citations
,
September 2001 in “Archives of Dermatological Research” This study reported that Sonic hedgehog signaling is crucial for hair follicle development, with its expression being significantly induced in normal embryonic hair germs but inhibited in certain experimental models.
6 citations
,
October 2022 in “Frontiers in Physiology” This review discusses the roles of store-operated Ca 2+ entry proteins in skin cell function and their links to various skin diseases, but it reports no new results.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.
2 citations
,
August 2020 in “CRC Press eBooks” This article discusses the impact of the tabby mutation on secondary vibrissae and hair follicle patterns in mice and reports no new clinical results.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
December 2014 in “TDX (Tesis Doctorals en Xarxa)” This study suggests that while cellular senescence impairs epidermal stem cells in aging, it also serves an essential role during embryonic development, highlighting its dual functional nature.
November 2003 in “Journal of Investigative Dermatology” This article includes summaries of multiple studies on dermatological topics like Imiquimod's effects on tumors, vitamin C absorption enhancement, and ferritin levels in hair loss, but reports no new results itself.
18 citations
,
June 2014 in “Anais Brasileiros de Dermatologia” This case report describes a patient with Clouston Syndrome who developed eccrine syringofibroadenoma, marking only the fourth such association documented in existing literature.