10 citations
,
April 2008 in “Journal of Pediatric Surgery” P-selectin is not the only factor that prevents scarring in fetal wound healing in mice.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
9 citations
,
December 1987 in “Archives of Dermatology” Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.
January 2026 in “BMC Veterinary Research” A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
25 citations
,
May 2016 in “Molecular biology of the cell” A protein in plants needs to bind two lipids to help with root hair growth, and this process is similar across different plant species.
3 citations
,
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
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.
July 2016 in “Experimental Dermatology” New treatments for hair growth and psoriasis may be possible, and gene differences could affect baldness and the severity of skin conditions.
11 citations
,
May 2016 in “Naunyn-Schmiedeberg's Archives of Pharmacology” A substance called 15-deoxy prostaglandin J2 can cause hair follicle cells to die, which might explain how prostaglandin D2 can lead to hair loss.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
3 citations
,
May 2022 in “Pediatric Critical Care Medicine” The patient recovered well and returned to college without any lasting issues.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
April 2016 in “Journal of Investigative Dermatology” Blocking Prostaglandin D₂ (PGD₂) could help treat hair loss.
October 2009 in “The American Journal of Gastroenterology” Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Astrotactin2 affects hair follicle orientation and skin cell polarity.
31 citations
,
October 2002 in “Journal of Investigative Dermatology” IL-10 may worsen alopecia areata instead of helping it.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
9 citations
,
February 2024 in “mBio” Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
7 citations
,
February 2015 in “Journal of comparative pathology” CD8+ T cells play a key role in graft-versus-host disease in certain mice models.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
26 citations
,
September 2009 in “Clinical genetics” Arab APS1 patients have unique and recurrent AIRE gene mutations.
23 citations
,
March 2017 in “Journal of Investigative Dermatology” An artificial lipid barrier can restore hair growth in cases of SCD1 deficiency.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” Disrupting the Hars2 gene in mice causes hearing loss due to mitochondrial problems and hair cell damage.
26 citations
,
March 2006 in “Endocrine, metabolic & immune disorders. Drug targets” This enzyme helps metabolize fatty acids and isoleucine, and could be key in treating neurological diseases and certain cancers.
53 citations
,
June 2012 in “Annales d'Endocrinologie” The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
15 citations
,
September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.