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.
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.
February 2010 in “Journal of the American Academy of Dermatology” This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.
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.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
86 citations
,
December 2002 in “Tissue Antigens” In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.
25 citations
,
May 2013 in “Journal of mammary gland biology and neoplasia” This review examines the roles of Hedgehog and Gli proteins in mouse embryonic mammary development and suggests that Gli3-repressor-mediated off-state of Hedgehog signaling determines mammary fate over hair follicle fate.
18 citations
,
August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
10 citations
,
July 2001 in “PubMed” This case report describes two patients with a likely new type of pachyonychia, characterized by nail thickening and severe generalized hypotrichosis, possibly linked to a mutation in a hard keratin.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
May 2023 in “Sučasna pedìatrìâ. Ukraïna” In a clinical observation study, researchers documented a case of total alopecia in an 11-year-old child, highlighting a potential link to genetic conditions such as autoimmune polyendocrinopathy candidiasis-ectodermal dystrophy (APECED syndrome) requiring further genetic and serological testing to verify the diagnosis.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
August 2020 in “European Journal of Dermatology” This study identified three EDAR gene variants potentially linked to hypohidrotic ectodermal dysplasia in three Pakistani families, which could aid in genetic counseling for similar cases.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
243 citations
,
October 2003 in “Developmental biology” This study identified ectodin as a novel BMP inhibitor that modulates BMP signaling in ectodermal development by interacting with SHH and FGF pathways.
12 citations
,
June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.