9 citations
,
April 2006 in “American Journal of Pathology” This study found that mutations in the Sgk3 gene cause defective hair follicle development and altered hair cycling in mice, with variable phenotypic outcomes depending on different dysfunction patterns of the SGK3 protein.
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.
245 citations
,
January 1998 in “Genes & Development” This study found that Hoxc13 mutations in mice cause defects in hair, nail, and tongue structures, with the most noticeable issue being brittle hair leading to alopecia.
7 citations
,
November 2014 in “Histochemistry and Cell Biology” This study found that mutant mice with the we/we wal/wal genotype exhibit significant defects in hair shaft structure and epidermis stratification, correlating with postnatal alopecia symptoms.
6 citations
,
November 1988 in “Journal of the American Academy of Dermatology” The document concludes that hair analysis is not good for assessing nutrition but can detect long-term heavy metal exposure.
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.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
218 citations
,
April 2008 in “Genes & Development” This research discusses how epithelial stem cells in the skin maintain normal homeostasis, contribute to wound repair, and highlights the importance of these processes, as defects can lead to skin diseases including cancers, but provides no new experimental results.
184 citations
,
September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
155 citations
,
August 2003 in “Journal Of Experimental Zoology Part B: Molecular And Developmental Evolution” This review discusses the conserved molecular mechanisms controlling hair follicle development and cycling and suggests they may also apply to other ectodermal derivatives, like teeth and feathers, but it reports no new results.
22 citations
,
December 2013 in “Molecular biology of the cell” This study found that ILK deficiency disrupts hair follicle development by impairing cell polarity and laminin-511 assembly, but these defects can be partially reversed with exogenous laminin-511.
3 citations
,
March 2010 in “Dermatologica Sinica” This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.
4 citations
,
January 2019 in “Obstetrics & gynecology science” This case study reported that a 51-year-old woman with hirsutism and voice thickening had a Leydig cell tumor detected by PET-CT, which normalized hormone levels and resolved symptoms after surgical removal.
271 citations
,
March 1999 in “Developmental biology” This study reveals that overexpression of Wnt3 in transgenic mouse skin leads to a short-hair phenotype and cyclical balding due to structural defects in hair shafts, highlighting a role for WNT signaling in hair growth regulation.
76 citations
,
May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
169 citations
,
May 2006 in “Genes & Development” This study found that keratin 17 and TNFα play interdependent roles in regulating hair follicle cycling, with TNFα required for the anagen–catagen transition and its ablation partially rescuing hair cycling defects in K17-null mice.
165 citations
,
October 2013 in “Nature Communications” This study demonstrates that bioengineered salivary gland transplants can fully regenerate gland function, producing saliva and restoring normal swallowing in salivary gland-defective mice, offering potential for xerostomia treatment.
74 citations
,
July 1979 in “Lancet” This case report describes a 10-month-old boy with dermatitis, alopecia, and hypotonia who showed dramatic improvement with oral biotin, suggesting a possible defect in biotin absorption or transport.
This study found that ARHGEF3 is crucial for hair follicle development in mice, as its absence leads to defects in placode compaction and impaired follicle downgrowth, highlighting its role in regulating cell shape rearrangements during embryogenesis.
November 2023 in “Frontiers in cell and developmental biology” This source reviews mechanisms and existing treatments for hair aging, highlighting factors like oxidative stress and DNA repair defects that affect hair follicle and stem cell function, and discusses research limitations and future directions in the field.
103 citations
,
October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
5 citations
,
July 1996 in “Journal of Cutaneous Medicine and Surgery” This study explains that while trichothiodystrophy and xeroderma pigmentosum share genetic defects, TTD patients primarily exhibit issues in transcription initiation, not the increased skin cancer risk seen in XP.
4 citations
,
January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
1 citations
,
July 2024 in “International Journal of Dermatology Venereology and Leprosy Sciences” This review discusses various environmental and chemical factors that contribute to hair shaft disorders, such as fractures, and highlights the potential roles of cysteine and glutamine in hair health, but reports no new results.
August 2014 in “Springer eBooks” This article proposes that the combined genetic factor of filaggrin deficiency and environmental factor of staphylococcal biofilms contribute to the development of eczema and ichthyosis vulgaris, but reports no new clinical findings.
22 citations
,
September 2011 in “Journal of Investigative Dermatology” This study found that impaired TCF/Lef1 signaling in mice leads to significant skin barrier defects due to altered lipid metabolism and epidermal differentiation.
256 citations
,
October 2013 in “Nature Communications” This study demonstrates that bioengineered lacrimal gland germs can successfully develop and restore tear production and ocular surface protection in a mouse model with lacrimal gland dysfunction.
14 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, targeted inactivation of the integrin-linked kinase gene in melanoblasts led to defects in cell migration, proliferation, and ability to populate the skin, implicating an integrin-linked kinase-Rac1 connection in melanocyte function.
3 citations
,
December 2020 in “Scientific reports” This study found that mitochondrial oxidative phosphorylation in epithelial cells is necessary for proper enamel formation and odontoblast differentiation in developing incisor teeth in K320E-Twinkle Epi mice.