195 citations
,
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.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
April 2026 in “Human Genome Variation” Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
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.
119 citations
,
September 2000 in “Journal of Biological Chemistry” GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
6 citations
,
December 2019 in “Frontiers in genetics” GLI1 might protect against the start of skin cancer and is not linked to cancer severity.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
Researchers created a new mouse model, G4, that mimics human PCOS symptoms and links the condition to a specific gene.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
July 2025 in “Clinical Case Reports” A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.
June 2024 in “Archives of Dermatological Research” SFRP2 and PTGDS may be key factors in female hair loss.
January 2016 in “International journal of reproduction, contraception, obstetrics and gynecology” A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
6 citations
,
December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
14 citations
,
February 2008 in “Stem Cells and Development” Seven genes are highly expressed in both germ-line and hematopoietic stem cells.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Three genes linked to the development of trichilemmal cysts were found.
24 citations
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December 2013 in “Archives of Dermatological Research” 5 citations
,
January 2001 in “Journal of dermatological science” The G(S) alpha subunit gene may help start hair follicle growth in newborn mice.
26 citations
,
December 1990 in “Journal of Biological Chemistry” Two specific genes are more active during hair growth in mice.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
February 2024 in “Research Square (Research Square)” The research suggests that SFRP2 and PTGDS proteins might be indicators of female pattern hair loss and could contribute to hair loss.
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.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
13 citations
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December 2020 in “PLoS ONE” Genetic factors influence growth and brain development in children.
39 citations
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March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
6 citations
,
October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.