72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
April 2018 in “Journal of Investigative Dermatology” CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
December 2024 in “European journal of medical research”
December 2022 in “Frontiers in plant science” CCDC22 and CCDC93 are essential for root and root hair growth in Arabidopsis.
25 citations
,
May 1994 in “Journal of Investigative Dermatology” Researchers found a new gene, hacl-1, that is active in mouse hair follicles during hair growth and may be important for hair biology.
40 citations
,
February 2005 in “Fertility and Sterility” Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
280 citations
,
January 2004 in “The EMBO Journal” AGC2-1 protein is essential for root hair growth in Arabidopsis.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
25 citations
,
November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
5 citations
,
March 2017 in “Gene” CAP1 decreases the expression of a hair-related protein in young Tan sheep's skin.
Keratinocytes can reduce the survival of certain melanoma cells, suggesting new therapy paths.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
5 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A new therapy for a skin blistering condition has not been developed yet.
4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
51 citations
,
December 2006 in “Mammalian Genome” 6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
36 citations
,
October 2015 in “Cell reports” Gab1 protein is crucial for hair growth and stem cell renewal, and Mapk signaling helps maintain these processes.
117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
July 2024 in “Journal of Investigative Dermatology” DS-2325a is safe and well-tolerated, supporting further development for Netherton Syndrome treatment.
11 citations
,
November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
5 citations
,
December 2020 in “Gene” ANXA1 influences hair growth in mice through the EGF signaling pathway.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
April 2017 in “Journal of Investigative Dermatology” Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
1 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” NAC1 controls certain enzymes that reduce root hair growth in Arabidopsis.
July 2024 in “Journal of Investigative Dermatology” Versican in dermal papilla cells is crucial for healthy hair growth.