42 citations
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June 2002 in “Molecular and Cellular Biology” Keratinocyte gene expression is controlled by multiple modules with specific binding sites.
28 citations
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February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
23 citations
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December 2008 in “Current medicinal chemistry” Stimulating sensory neurons can increase IGF-I production, which may help treat various diseases and improve tissue health.
21 citations
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April 2019 in “Clinical, cosmetic and investigational dermatology” The document concludes that stopping shaving or removing affected hair can alleviate Pseudofolliculitis barbae (PFB).
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
2 citations
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October 2023 in “Philosophical transactions - Royal Society. Biological sciences” Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
2 citations
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January 1960 in “Australian Journal of Biological Sciences” The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
1 citations
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June 2025 in “Journal of Allergy and Clinical Immunology Global” A young boy with Netherton syndrome improved significantly using IVIG, dupilumab, and dietary changes.
1 citations
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December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
1 citations
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September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
April 2010 in “The journal of immunology/The Journal of immunology” FoxN1 gene is crucial for proper thymus structure and normal skin appearance.
October 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
April 2025 in “Indian Journal of Paediatric Dermatology” Zinc supplements improved the girl's skin and hair condition.
February 2025 in “Intisari Sains Medis” PDRN from salmon may slow skin aging by improving skin quality and reducing inflammation.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
August 2019 in “Journal of Investigative Dermatology” The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
April 2017 in “Journal of Investigative Dermatology” Deleting the CRIF1 gene in mice disrupts skin and hair formation, certain proteins affect hair growth, a new compound may improve skin and hair health, blood cell-derived stem cells can create skin-like structures, and hair follicle stem cells come from embryonic cells needing specific signals for development.
Controlling Tslp can improve health in AEC syndrome patients.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
3 citations
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March 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Zebrafish are useful for studying and developing treatments for human skin diseases.