7 citations
,
August 2017 in “PloS one” This study found that NIH hairless mice exhibit abnormalities in hair growth and immune-related pathways, with Pik3r1 and Pik3r3 identified as key genes for further investigation.
146 citations
,
May 2002 in “The American journal of pathology” This study found that cathepsin L deficiency in mice led to significant abnormalities in hair follicle development and cycling, including disrupted hair shaft outgrowth and premature hair growth phase entry.
134 citations
,
January 2011 in “Development” This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.
101 citations
,
August 2010 in “PLoS ONE” In this mouse study, severe selenoprotein deficiency in epidermal cells was linked to skin abnormalities, disrupted hair follicle development, and progressive alopecia, highlighting the role of selenoproteins in skin and hair health.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
2 citations
,
January 2000 in “Journal of Toxicologic Pathology” This study identified a single autosomal recessive gene responsible for hypotrichosis in a mutant rabbit strain, affecting hair growth and causing epidermal and hair follicle abnormalities.
This article reviews the history and characteristics of the rare nude phenotype SCID, primarily distinguished by severe T cell immunodeficiency and notable skin and hair abnormalities, but reports no new clinical findings.
111 citations
,
June 2002 in “The EMBO Journal” This study found that overexpression of Smad7 in transgenic mice led to severe alterations in multiple epithelial tissues, resulting in early death after birth.
178 citations
,
May 2006 in “Developmental Dynamics” This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.
85 citations
,
March 2008 in “Journal of Cell Science” This study created transgenic mouse models with the LMNA gene mutation common in Hutchinson-Gilford progeria syndrome, revealing skin and teeth abnormalities related to transgene expression levels.
1 citations
,
October 1971 in “The BMJ” The document suggests that hair loss after stopping birth control may be similar to post-pregnancy hair loss and could recur with future pregnancies.
This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.
1533 citations
,
October 2008 in “Endocrine reviews” This research highlights that engineered mice lacking the vitamin D receptor show multiple health issues similar to human vitamin D deficiency, underscoring the widespread impacts of the vitamin D endocrine system.
688 citations
,
June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
38 citations
,
November 2012 in “Expert Opinion on Drug Safety” This article reviews different acne treatments and emphasizes the importance of being aware of their potential side effects, but reports no new clinical results.
14 citations
,
March 1995 in “Journal of cell science” This study found that targeting SV40 T antigen expression to hair follicles in transgenic mice caused abnormal hair structure and hair loss, but did not lead to cell immortalization or tumor formation in follicles.
4 citations
,
December 2020 in “Dermatologic Therapy” This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.
4 citations
,
May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
1 citations
,
January 2015 in “Advanced techniques in biology & medicine” This study found that among patients with Down syndrome, those with alopecia areata may have increased antiperoxidase antibodies, possibly linked to hypothyroidism.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
July 2023 in “Journal of allergy and clinical Immunology. Global” This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study concluded that fatty acid transport protein 4 in epidermal keratinocytes is crucial for maintaining normal skin structure, as its deficiency led to hyperkeratosis and epidermal barrier disruption in mice.
9 citations
,
September 2022 in “Journal of Clinical Investigation” In this study, mouse models of 22q11.2 deletion syndrome showed that growth issues in small embryonic thymuses were linked to mesenchymal cells, which could be corrected by substituting with normal mesenchyme.
1 citations
,
April 2008 in “Pigment Cell & Melanoma Research” This study suggests that Foxn1 expression in keratinocytes influences pigmentation in mice, highlighting differences in the molecular mechanisms between mouse and human pigmentation processes.
59 citations
,
October 2017 in “Proceedings of the National Academy of Sciences” This study found that the zinc transporter ZIP10 is crucial for epidermal development, as it influences the activity of p63, promoting epidermal morphogenesis.
2 citations
,
August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
January 2026 in “Pediatrics International” This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.
69 citations
,
August 1999 in “Developmental biology” This study found that ectopic expression of Whn in transgenic mice caused impaired differentiation in epidermis and hair follicles, with hair growth defects and severe urinary tract issues leading to hydronephrosis.
8 citations
,
November 2020 in “Nature Communications” This study demonstrates that Tp63-expressing epithelial stem cells from non-skin tissues can respond to skin morphogenetic signals and contribute to the formation of hair follicles, sebaceous glands, and epidermis.