7 citations
,
January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
124 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
April 2019 in “Journal of Investigative Dermatology” FGFR2 signaling controls Merkel cell formation in different skin regions.
35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
152 citations
,
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.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
79 citations
,
January 2002 in “Nucleic Acids Research” BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
August 2011 in “Reproductive Toxicology” 22 citations
,
June 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
17 citations
,
July 2022 in “BMC Genomics” The FA2H gene improves cashmere fineness by enhancing hair growth in goats.
2 citations
,
December 2023 in “Stem Cells Translational Medicine” ISX-9 helps stem cells heal lung injury better by boosting growth factor secretion.
1 citations
,
August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
5 citations
,
January 2001 in “Journal of dermatological science” The G(S) alpha subunit gene may help start hair follicle growth in newborn mice.
20 citations
,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
February 2026 in “bonndoc (University of Bonn)” New gene variants were found for rare skin and hair disorders, improving understanding and treatment.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
The transcription factor Meis2 is essential for touch sensation and proper nerve development in touch receptors.
June 2023 in “Journal of biological chemistry/The Journal of biological chemistry” Sdr16c5 and Sdr16c6 genes regulate a key point in lipid production that affects eye and skin gland function.
34 citations
,
November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
1 citations
,
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Sox9 levels in brain stem cells affect whether they stay as stem cells or become neurons.
1 citations
,
July 2023 in “Journal of Animal Science and Biotechnology” The SOSTDC1 gene is crucial for determining sheep wool type.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
November 2025 in “Journal of Investigative Dermatology” Tanning ability is linked to specific DNA changes in skin genes.
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
8 citations
,
May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
32 citations
,
February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
10 citations
,
January 2003 in “Dermatology” The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.