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.
July 2024 in “Journal of Investigative Dermatology” TGF-β signaling is essential for new hair growth after a wound.
4 citations
,
March 2020 in “JAAD Case Reports” Vitamin B12 deficiency can cause darkening of all nails.
August 2024 in “Life Science Alliance” Helminth protein helps wounds heal better by reducing scarring and promoting tissue growth.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
July 2024 in “Journal of Investigative Dermatology” Modulating the BTNL2 pathway can prevent hair loss in mice.
53 citations
,
July 2009 in “Cancer Research” Blocking certain proteins can reduce skin inflammation caused by cancer treatment.
7 citations
,
March 2012 in “Journal of Investigative Dermatology” Some thymic peptides can increase human hair growth, while others may inhibit it.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Controlled microflora in animals delays immune cell maturation and affects immunity.
21 citations
,
January 2024 in “Science Immunology” Regulatory T cells protect hair follicle stem cells by maintaining immune privilege in the skin.
November 2018 in “Springer eBooks” Children need early diagnosis and treatment for iron-deficiency anemia to prevent learning problems and promote health.
56 citations
,
September 2013 in “Journal of Biochemistry and Molecular Biology” Androgens increase a growth factor in hair cells by creating reactive oxygen species, and antioxidants might help treat hair loss.
12 citations
,
April 2017 in “Experimental and Therapeutic Medicine” Patients with severe active alopecia areata have lower CD200 expression and an imbalance in their immune system.
88 citations
,
August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
November 2025 in “Journal of Investigative Dermatology” Chronic refractory alopecia areata has more skin-resident memory T cells, and JAK inhibitors may help reduce them.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
10 citations
,
April 2020 in “PloS one” Lack of Crif1 in hair follicle stem cells slows down hair growth in mice.
November 2023 in “Вопросы современной педиатрии” Genetic testing can diagnose hair loss linked to DSG4 gene variants.
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.
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MCPIP1 in myeloid cells is important for skin cancer development and healthy hair growth.
48 citations
,
April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
January 2019 in “DSpace@MIT (Massachusetts Institute of Technology)” Higher PHGDH levels cause unusual melanin buildup in hair follicles.
2 citations
,
November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
46 citations
,
March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Disrupting Acvr1b in mice causes severe hair loss and thicker skin.
39 citations
,
April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.