97 citations
,
March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
April 2023 in “Journal of Investigative Dermatology” Type 1/17 inflammation in psoriasis increases skin cell growth due to a molecule that could be a new treatment target.
208 citations
,
November 2000 in “Development” Edar and Eda proteins are crucial for proper tooth development.
January 2024 in “Wiadomości Lekarskie” DEC cells show promise as a safe and effective treatment for Duchenne muscular dystrophy.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
August 2016 in “Journal of Investigative Dermatology” Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
16 citations
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May 2000 in “Endocrinology” A new gene, mrp4, is found in mice and may play a unique role in hair follicle development in tails and ears.
14 citations
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May 2016 in “International Journal of Molecular Sciences” PP2Acα is essential for proper hair and skin development.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
7 citations
,
September 2019 in “Journal of Cellular Physiology” Akt2 protein is essential for normal cell division in early mouse embryos.
13 citations
,
August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
26 citations
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December 1999 in “Journal of Investigative Dermatology” Certain genes are linked to wool follicle structure and function, but not hair cycle regulation.
April 2023 in “Journal of Investigative Dermatology” LSD1 is essential for healthy skin development and creating the skin's protective barrier.
195 citations
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April 2005 in “Journal of biological chemistry/The Journal of biological chemistry” The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
14 citations
,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
11 citations
,
February 2011 in “International Journal of Molecular Sciences” Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
1 citations
,
October 2022 in “Biomedicines” Prdm1 is necessary for early whisker development in mice but not for other hair, and its absence changes nerve and brain patterns related to whiskers.
19 citations
,
March 2016 in “Frontiers in Plant Science” Spermidine is essential for plant growth and adaptation to stress.
41 citations
,
January 2015 in “Development” Atoh1 expression can create new Merkel cells in the skin.
September 2019 in “Journal of Investigative Dermatology” Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
8 citations
,
January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
April 2018 in “Journal of Investigative Dermatology” Id2 gene helps keep hair follicle stem cells inactive.