15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
76 citations
,
September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
February 2026 in “bonndoc (University of Bonn)” This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.
4 citations
,
February 2023 in “International Journal of Stem Cells” The FTO gene hinders stem cells in hair follicles from becoming pigment cells.
April 2026 in “The Plant Journal” This study demonstrated that MYB83 plays a crucial negative role in ethylene-mediated root hair growth in Arabidopsis by directly inhibiting EIN3, and that manipulating the MYB83-EIN3 interaction is key to root hair development and plant tolerance to nutrient stress conditions.
5 citations
,
January 2011 in “Archives de Pédiatrie” This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.
December 2023 in “The journal of cell biology/The Journal of cell biology” This study developed the mTurquoise2-Col4a1 mouse model and used fluorescent tagging of collagen IV to offer new insights into basement membrane dynamics during hair follicle budding, revealing that basement membranes are flexible and stable structures in developing skin tissue.
17 citations
,
September 2022 in “Genes & Genomics” In this study, researchers identified specific long non-coding RNAs involved in feather development that do not follow traditional genetic inheritance patterns in chickens.
2 citations
,
July 2021 in “UNC Libraries” This study suggests that residues Val-889 and Arg-752 in the androgen receptor's steroid binding domain are crucial for NH2-/carboxyl-terminal interaction, affecting receptor stability and function.
13 citations
,
July 2019 in “PLoS ONE” This study found that deleting podoplanin in mouse keratinocytes promoted hair follicle growth during regeneration, suggesting it may regulate hair cycling pathways that could aid in treating hair loss conditions.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
16 citations
,
April 2021 in “Plant Signaling & Behavior” This study found that in Arabidopsis, the MYB30-EIN3 module plays a role in adapting root hair development to phosphate deficiency, potentially enhancing phosphate uptake from soil.
1 citations
,
June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
22 citations
,
April 2010 in “Journal of Cellular Biochemistry” This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
15 citations
,
April 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that A(3)B(5) downregulates melanin production and suppresses melanoma cell growth by promoting proteasomal degradation of TRP-2.
13 citations
,
November 2005 in “Endocrinology” This study explored the secretion and cellular localization of different forms of follistatin and FST-like-3, revealing variable secretion kinetics and possible intracellular roles, particularly for nuclear FSTL3.
4 citations
,
October 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the MD-3 antibody significantly improved the survival of hair follicle allografts in nonhuman primates by reducing T-cell infiltration.
2 citations
,
August 2022 in “Animals” In this study, a specific genetic variant of KRTAP6-2 in Longdong cashmere goats was associated with finer cashmere fiber diameter, suggesting its potential as a molecular marker for breeding improvements.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
36 citations
,
July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
March 2026 in “Adipocyte” This study identified transcription elongation as a crucial regulatory factor in adipocyte cell fate, showing that the elongation factors Spt4 and Spt6 are essential for proper adipogenic differentiation by aiding RNA polymerase II progression through key adipogenic genes.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used a reporter mouse model to identify and characterize distinct subtypes of dopaminergic neurons in the gut's enteric nervous system, revealing novel populations with potential implications for understanding their roles and vulnerabilities in disease.
2 citations
,
November 2022 in “Skin research and technology” This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.
71 citations
,
June 2005 in “Journal of Investigative Dermatology” This study demonstrates that PAD1 and PAD3 are involved in hair follicle differentiation, while PAD1 and PAD2 may play a role in the physiology of sweat glands and arrector pili muscles.
5 citations
,
March 2012 in “Journal of Investigative Dermatology” In their mouse study, Oda et al. found that removing the MED1 gene in the skin led to hair loss and changes in epidermal cell differentiation, indicating MED1's significant role in these processes.
71 citations
,
May 1996 in “Journal of Investigative Dermatology” This study found that overexpression of a mutated ornithine decarboxylase transgene in mice led to complete hair loss, which could be prevented or reversed with an ODC inhibitor.
20 citations
,
July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.