62 citations
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January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
20 citations
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October 2008 in “European journal of endocrinology” Lower lipin 1β in belly fat is linked to insulin resistance in people with polycystic ovary syndrome.
December 2017 in “Elsevier eBooks” The vitamin D receptor helps maintain hair and bone health even without binding vitamin D.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
May 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” A potential treatment for atopic dermatitis could be to increase PADI1 expression to improve skin barrier function.
100 citations
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August 2011 in “Journal of Investigative Dermatology” Lack of vitamin D receptor increases skin tumor risk by boosting hedgehog signaling.
February 2016 in “Science” Foxc1 and COL17A1 are crucial for maintaining healthy hair follicles and preventing hair loss.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
138 citations
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June 2004 in “Journal of Investigative Dermatology” Involucrin gene expression is controlled by specific proteins and signaling pathways.
4 citations
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November 2024 in “Journal of Advanced Research” Targeting NMMHC IIA may help treat blood-brain barrier damage.
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.
April 2018 in “Journal of Investigative Dermatology” Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
7 citations
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June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
10 citations
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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
Defective nuclear transport may cause gene expression changes in Progeria.
250 citations
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November 2003 in “The Journal of Cell Biology” BMP receptor IA is essential for proper hair cell differentiation in mice.
October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
January 2023 in “Åbo Akademi University Research Portal” Vimentin is crucial for wound healing, cell growth, and managing immune responses.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
July 2024 in “PLANT PHYSIOLOGY” CIPK13 and CIPK18 genes are crucial for root hair growth in plants.
10 citations
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January 2001 in “ACTA HISTOCHEMICA ET CYTOCHEMICA” Lysosomal proteases and cytoplasmic enzymes help hair follicle cells develop and differentiate.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
19 citations
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March 2017 in “Scientific Reports” HAT-L4 is crucial for preventing body fluid loss by maintaining skin barrier integrity.
124 citations
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July 2017 in “eLife” Type XVII collagen helps control skin cell growth and could be a target for anti-aging treatments.
100 citations
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August 2008 in “American Journal Of Pathology” VEGF-A is crucial for normal skin function and may be linked to psoriasis.
2 citations
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August 2021 in “Animal Cells and Systems” Egfl6 is not needed for zebrafish face development.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.