119 citations
,
September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
A specific gene change in APCDD1 increases the risk of hair loss.
15 citations
,
July 2015 in “Developmental Dynamics” Orai1 protein is crucial for tooth development and affects enamel thickness and mineralization.
8 citations
,
December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
17 citations
,
June 2017 in “Gene” A rare genetic mutation found in an Indian family can be detected through prenatal screening.
23 citations
,
April 2016 in “American Journal of Pathology” The research suggests that a specific skin gene can be controlled by signals within and between cells and is wrongly activated in certain skin diseases.
1 citations
,
February 1991 in “Journal of Biological Chemistry” 232 citations
,
July 1995 in “Nature Genetics”
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
4 citations
,
March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
58 citations
,
July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
10 citations
,
November 2009 in “Pigment cell & melanoma research” The document concludes that MGRN1 affects mouse fur color by interfering with a receptor's signaling, but its full role in the body is still unknown.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
15 citations
,
September 2018 in “Frontiers in Plant Science” BcFLA1 protein is crucial for root hair growth in response to low phosphate in Brassica carinata.
April 2020 in “The FASEB Journal” Loss of Rap1 protein speeds up heart aging in mice.
11 citations
,
August 2010 in “Developmental neurobiology” Ptprq has multiple forms that change during inner ear development.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” YAP1 is important for skin regeneration and may affect skin disorder treatments.
141 citations
,
February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
January 2004 in “Molecular biotechnology”
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.
July 2022 in “Journal of Investigative Dermatology” Lef1 is essential for normal skin, hair growth, and healing wounds in mice.
19 citations
,
May 2022 in “International journal of molecular sciences” PRX01, PRX44, and PRX73 are essential for root hair growth in Arabidopsis thaliana.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.