2 citations
,
October 2016 in “OPAL (Open@LaTrobe) (La Trobe University)” The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.
20 citations
,
August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
324 citations
,
May 2002 in “Oncogene”
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
March 1998 in “Journal of dermatological science” Protease Nexin-1 is found in human hair growth cells and is affected by male hormones.
14 citations
,
August 2020 in “Journal of cosmetic dermatology” Experts recommend using PN-HPT™ for skin rejuvenation in various body areas but have less agreement on initial facial treatment cycles.
8 citations
,
December 2019 in “Molecular genetics and metabolism reports” Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
124 citations
,
November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
16 citations
,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
May 2025 in “Egyptian Journal of Dermatology and Venerology” Certain gene changes and hormone levels are linked to female hair loss.
59 citations
,
November 2011 in “Development” Trps1 is essential for proper hair follicle development.
5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
47 citations
,
September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
54 citations
,
May 1994 in “Veterinary Pathology” PTHrP is higher in certain dog tumors and may act as a local growth factor.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
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.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
7 citations
,
March 2012 in “Journal of Investigative Dermatology” Some thymic peptides can increase human hair growth, while others may inhibit it.
30 citations
,
February 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Plet-1 protein helps hair follicle cells move and stick to tissues.
8 citations
,
June 2012 in “PloS one” Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
14 citations
,
August 2021 in “Molecular Genetics and Metabolism Reports” Pegvaliase effectively reduces blood phenylalanine levels in most PKU patients, but requires personalized plans and good communication to manage side effects.
6 citations
,
March 1996 in “Journal of Investigative Dermatology” 28 citations
,
December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
3 citations
,
February 2019 in “Molecular genetics and metabolism” The combination of tadalafil and finasteride improves urinary symptoms and erectile function in men with enlarged prostates.