6 citations
,
March 2007 in “BioTechniques” PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
The gene Endothelin 3 makes mice's fur darker by increasing pigment cells and pigment levels.
17 citations
,
July 2013 in “Amino Acids” Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
64 citations
,
May 1981 in “Clinical and Experimental Dermatology” A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
5 citations
,
January 1998 in “Clinical and experimental dermatology” Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
252 citations
,
November 1995 in “The EMBO Journal” Blocking EGFR in mice causes hair loss and skin changes.
7 citations
,
November 1997 in “Pediatric Dermatology” Trichothiodystrophy can be linked to urologic issues and high calcium in urine.
31 citations
,
July 2004 in “Molecular Medicine” Certain defective glucocorticoid receptor mutants move faster inside cell nuclei and work less effectively.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
6 citations
,
November 2010 in “Histochemistry and cell biology” The proteins transthyretin and megalin are more present in the growth phase of hair, suggesting they might affect hair health and growth.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” The VEGF +405G allele may increase the risk of PCOS in South Indian women.
Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
January 2008 in “Vestnik Tomskogo gosudarstvennogo universiteta Filologiya” Overexpressing the Tβ4 gene in goats can increase cashmere production.
24 citations
,
May 2006 in “Proceedings of the National Academy of Sciences of the United States of America” Budesonide and N-acetylcysteine reduced tumors and alopecia in mice, regardless of FHIT gene status.
January 2026 in “Journal of Dermatological Treatment” GT20029 showed some hair growth improvement, but longer studies are needed for better results.
13 citations
,
June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
41 citations
,
July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
63 citations
,
May 2015 in “PloS one” GALT5 and GALT2 are important for plant growth and development because they help with protein glycosylation.
10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
April 2023 in “Journal of Investigative Dermatology” Human TMEM2 does not break down hyaluronan but helps control its metabolism.
82 citations
,
July 2012 in “Brain pathology” High LGR5 levels in glioblastoma indicate poor prognosis and are essential for cancer stem cell survival.
29 citations
,
July 2013 in “The Journal of Sexual Medicine” Testing for CAG repeat polymorphism in the androgen receptor gene is not currently recommended for managing hypogonadism.
16 citations
,
July 2018 in “Experimental Dermatology” Removing Gata6 causes hair follicle and sebaceous duct enlargement.
17 citations
,
September 2009 in “British Journal of Dermatology” Fragile hair in children is rarely linked to trichothiodystrophy (TTD).