13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
1 citations
,
May 2021 in “BMC Proceedings” The document concludes that more research is needed to reduce frequent hospital visits, addiction medicine education improves with specific training, early breast cancer surgery findings are emerging, nipple smears are not very accurate, surgery for older melanoma patients doesn't extend life, a genetic condition in infants can often be treated with one drug, doctors are inconsistent with blood clot medication, a certain gene may protect against cell damage, muscle gene overexpression affects many other genes, and some mitochondrial genes are less active in mice with tumors.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
4 citations
,
October 2021 in “Scientific Reports” NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
54 citations
,
October 2007 in “The FASEB Journal” Phospholipase C-δ1 is crucial for normal hair development.
5 citations
,
January 2025 in “Science Advances” 5α-reductase 2 is crucial for stress response in male rats.
55 citations
,
November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
December 2019 in “Thèses en ligne de l'Université Toulouse III (Université Toulouse III)” EGM2 and SOX2 help form beige adipocytes by maintaining ASC immaturity and activating brown adipocytes.
86 citations
,
October 2005 in “Experimental Dermatology” The Foxn1 gene mutation causes hairlessness and immune system issues, and understanding it could lead to hair growth disorder treatments.
1 citations
,
October 2023 in “BMC Genomics” miRNAs in the Dlk1-Gtl2 region may improve lamb fur quality.
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.
694 citations
,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
1 citations
,
February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
2 citations
,
July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
29 citations
,
December 2017 in “Molecular therapy” Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
1 citations
,
November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
33 citations
,
June 2016 in “Pediatric Dermatology” Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
5 citations
,
November 2024 in “Journal of Clinical Immunology” Dupilumab effectively controls symptoms in infants with Netherton syndrome.
13 citations
,
April 1982 in “The Journal of Dermatology” Poly(ADP-ribose) synthesis is linked to skin cell differentiation.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Blocking a key energy pathway in human hair follicles can trigger stress responses that stop cell growth.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” SETDB1 is essential for controlling DNA methylation, silencing retrotransposons, and maintaining skin cell health, with its absence leading to skin inflammation and hair loss.
1 citations
,
June 2022 in “Experimental dermatology” The SHJH hr mice with a mutated Hr gene show signs of faster skin aging due to poor antioxidative protection.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
April 2019 in “Journal of Investigative Dermatology” Increasing COX-2 in mouse skin causes bigger sebaceous glands and thinner hair, but stopping COX-2 can reverse hair thinning.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
66 citations
,
October 2002 in “Human molecular genetics online/Human molecular genetics” A gene mutation in mice causes skin defects and early death.
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.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
39 citations
,
January 2019 in “Cells” Gene therapy has potential as a future treatment for Hutchinson-Gilford progeria syndrome.
101 citations
,
October 2007 in “Journal of Biological Chemistry” Reduced matriptase activity causes skin and hair issues in both humans and mice.