4 citations
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February 2012 in “Chinese Science Bulletin” In this study, overexpression of the MtAnn3 gene in Medicago truncatula roots was associated with altered root hair growth polarity in a calcium-free environment.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
49 citations
,
June 2019 in “eLife” This study reported the discovery of large-scale haplotypes (cenhaps) in human centromere regions, revealing deep genetic diversity, including introgressed Neanderthal and ancient African lineages.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
29 citations
,
August 1999 in “Journal of Investigative Dermatology” New mutations in hair keratin genes cause the rare hair disorder monilethrix.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
10 citations
,
August 2020 in “Drug metabolism and drug interactions” This case series found that patients with the NUDT15 415C>T variant experienced severe azathioprine toxicity, suggesting genotype-based dosing could reduce adverse effects.
January 2013 in “International Journal of Trichology” This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.
13 citations
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December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
11 citations
,
February 1982 in “Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis” This study reports that treatment with X-rays or procarbazine induced dose-dependent mutations in melanocytes in mouse hair follicles, showing similar mutation rates to previous methods.
75 citations
,
March 1998 in “Journal of Investigative Dermatology” This study reports that transgenic mice carrying Clone B DNA developed spontaneous melanomas likely due to an interruption in genes regulating cell growth in melanin-producing cells, offering a model for melanoma research.
44 citations
,
December 2005 in “Journal of Investigative Dermatology” This study found significant associations between certain MICA variants and haplotypes with alopecia areata, suggesting MICA as a potential candidate gene linked to the disease's susceptibility and severity.
19 citations
,
June 2020 in “BMC Cancer” This study reported that genetic changes in trichilemmal carcinoma resemble those in other skin cancers, with TP53 mutations associated with aggressive clinical outcomes.
3 citations
,
March 2019 in “Case Reports” This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
This study found that among Indian rheumatoid arthritis patients, the MTHFR A1298C polymorphism was associated with varying responses to methotrexate, with 1298CC genotypes showing higher toxicity and poorer efficacy compared to 1298AA genotypes.
207 citations
,
July 2006 in “Development” This study identified a novel MTS24-positive murine keratinocyte population with increased colony-forming ability, suggesting these cells may serve as a new reservoir of proliferative progenitor or stem cells in hair follicles.
119 citations
,
November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
71 citations
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May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that trichothiodystrophy hair brittleness is linked to abnormalities in sulfur content and structural organization, making it prone to breakage.
7 citations
,
October 2013 in “Methods in molecular biology” This article describes standard methods for studying DNA methylation dynamics in mouse skin and hair follicle stem cells but presents no new research findings.
January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
35 citations
,
November 2021 in “Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology” This study identified dynamic changes in DNA methylation associated with different growth stages in Tan sheep, which may offer insights to retain their valuable curly fleece as they age.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrated that Tet2 and Tet3 enzymes are crucial for controlling gene expression related to hair differentiation in mice, suggesting DNA demethylation could be a new method for managing hair growth.
May 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” This study investigated genetic and epigenetic markers for prostate cancer, reporting that certain genotype combinations may influence cancer risk or protection and identifying GSTP1 promoter methylation as a strong prognostic and diagnostic marker linked to tumor aggressiveness.
234 citations
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November 2009 in “American journal of human genetics” This study identified genetic variants in the Trichohyalin gene that account for approximately 6% of the variance in hair morphology among Australians of European descent.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
11 citations
,
November 2019 in “The FASEB Journal” In this study, a missense mutation in the MAP2 gene was found to be associated with reduced hair follicle density, leading to the hairless phenotype in pigs.
January 2025 in “Dermatology Practical & Conceptual” In this study, researchers identified four gene variants that may contribute to androgenic alopecia and vitiligo, proposing a novel di-genic inheritance model that could help guide genomic approaches for personalized treatment and early diagnosis.