69 citations
,
August 1999 in “Developmental biology” The nude gene causes skin cell overgrowth and improper development, leading to hair and urinary issues.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
57 citations
,
April 2009 in “Differentiation” SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
54 citations
,
January 2009 in “Development” β-catenin, Shh, and Bmp signaling control hair follicle development.
32 citations
,
February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
January 2006 in “Advances in developmental biology” The Hairless gene is crucial for healthy skin and hair growth.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
July 2012 in “International Journal of Trichology” Understanding hair health and disorders is important for effective treatment.
169 citations
,
June 1998 in “Journal of Investigative Dermatology” Male pattern baldness is likely caused by multiple genes, not just 5α-reductase genes.
163 citations
,
October 2001 in “EMBO journal” Overexpressing follistatin in mice delays wound healing and reduces scar size.
62 citations
,
October 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes can change hair structure and cause monilethrix, with nail issues more common in certain gene mutations.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
15 citations
,
August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
13 citations
,
August 1999 in “Journal of Investigative Dermatology” Bikunin is found on the cell boundaries of certain skin layers and may help regulate skin and hair functions.
12 citations
,
January 2020 in “Indian Dermatology Online Journal” Female pattern hair loss has multiple causes and treatments, with new therapies showing promise.
July 2024 in “Russian Journal of Child Neurology” Selumetinib effectively reduces tumor size in many children with neurofibromatosis type 1, but can cause skin and hair issues.
155 citations
,
December 2002 in “Journal of Investigative Dermatology” Thyroid-related genes are active in skin cells and may affect autoimmune conditions.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
5 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Dynamic, light touch is sensed through a common mechanism involving Piezo2 channels in sensory axons.
2 citations
,
January 2025 in “动物学研究” YAP1 helps fat cell formation by influencing the Hippo pathway.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” MOF controls skin development by regulating genes for mitochondria and cilia.
65 citations
,
September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
31 citations
,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
12 citations
,
October 2004 in “Experimental Gerontology” Changes in testosterone and estrogen receptor genes can affect how men age, influencing body fat, hair patterns, and possibly leading to skin disorders.
4 citations
,
July 2012 in “Genesis” The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.