31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
April 2024 in “Anais Brasileiros de Dermatologia” A new genetic mutation was found causing hair and eye issues in a boy.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
53 citations
,
September 1999 in “The journal of cell biology/The Journal of cell biology” K16 can partially replace K14 but causes hair loss and skin issues.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Tet1/2/3 enzymes affect hair follicle cell development by influencing BMP signaling.
Dacomitinib can cause nail and skin issues, but these can be managed without stopping the drug.
2 citations
,
July 2015 in “Archives of Dermatological Research” A new gene variant in the DSP gene is linked to a unique type of hair loss.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
8 citations
,
December 2003 in “Experimental Dermatology” Altering the keratin 17 gene in mice hair follicles caused temporary hair issues, but changes were minimal and short-lived.
16 citations
,
June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” The enzyme DHHC13 is essential for healthy hair and skin, and its deficiency leads to hair loss and skin problems.
24 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Two new proteins, hKAP1.6 and hKAP1.7, are found in the hair follicle cortex.
33 citations
,
May 2018 in “Stem Cell Reports” Krt15+ cells in the mouse intestine resist radiation and can start tumors.
9 citations
,
July 2022 in “Journal of Biological Chemistry” WWP2 is crucial for tooth development in mice.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
37 citations
,
May 1997 in “The Journal of Clinical Endocrinology & Metabolism” MK-386 lowers DHT in blood and skin but not in semen.
2 citations
,
February 1990 in “PubMed” DDR-II hair follicle cells don't respond to 1, 25-dihydroxyvitamin D3, aiding diagnosis.
13 citations
,
August 1985 in “The Journal of Dermatology” HKN-2 antibody targets specific skin and hair cells, showing keratin complexity.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
53 citations
,
August 2005 in “The Journal of Cell Biology” Sgk3 is essential for normal hair follicle growth and maintenance.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” HSD11b1 affects skin nerves and increases non-histaminergic itch.
1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
38 citations
,
October 2001 in “British Journal of Dermatology” Keratin K6irs is a marker for the inner root sheath of hair follicles in mice and humans.
April 2016 in “Journal of Investigative Dermatology” Double-stranded RNA activates a pathway that causes a skin protein to be expressed in the wrong place.
165 citations
,
September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
41 citations
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December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting MED1 in skin cells causes hair loss and skin changes.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.