April 2018 in “Journal of Investigative Dermatology” CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.
24 citations
,
July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
56 citations
,
April 2019 in “The Plant Journal” Cyclic nucleotide-gated channels are crucial for proper root hair growth and calcium balance in plants.
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
43 citations
,
February 1999 in “Biochemical Journal” Overexpression of SSAT in mice causes hair loss, liver damage, and sensitivity to polyamine analogues.
April 2018 in “Journal of Investigative Dermatology” The research found that blocking a gene called NEMO can potentially prevent harmful effects of aging at the cellular level.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
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.
54 citations
,
October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
February 2022 in “Authorea (Authorea)” PAON shows skin patterns due to genetic mosaicism.
4 citations
,
May 2020 in “Cureus” A new genetic mutation causing Werner's syndrome was found in an Indian man.
1 citations
,
October 2020 in “Research Square (Research Square)” A genetic variant in goats is linked to cashmere growth.
5 citations
,
July 2014 in “Acta Crystallographica Section D-biological Crystallography” Mutations in the enzyme don't significantly change how it binds to its specific substances.
2 citations
,
July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
37 citations
,
December 1995 in “Journal of Cell Science” Nexin 1 may help control hair growth.
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.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
1 citations
,
September 2023 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A gene mutations cause short anagen hair syndrome.
5 citations
,
January 2020 in “Bioscience Reports” Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
57 citations
,
August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
87 citations
,
January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
115 citations
,
December 2019 in “The Plant Journal” Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
6 citations
,
December 2021 in “International Journal of Endocrinology” The genetic variant studied does not affect PCOS symptoms in Kashmiri women.
1 citations
,
April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
16 citations
,
March 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The Notch signaling pathway helps in mouse hair development through a noncanonical mechanism that does not rely on RBPj or transcription.
129 citations
,
October 2017 in “BMC Genomics” The study improved understanding of gene roles in cashmere goat hair growth, aiding future cashmere production.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.