26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
September 2023 in “International journal of science and healthcare research” In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.
6 citations
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April 2021 in “NAR Genomics and Bioinformatics” This study found extensive co-evolution of polyglutamine repeat lengths in neural protein clusters, highlighting their potential role in neurocognitive variation and neuropsychiatric disease development.
January 2012 in “Journal of Investigative Dermatology” The document presented various studies on hair and cutaneous development, revealing insights into hair biology and potential therapeutic targets for hair-related conditions. Key findings included the role of stem cells and their niches in hair regeneration, the impact of TACE/ADAM17 depletion on alopecia, and the expression of somatostatin in hair follicles. Research on genetic factors, such as CYLD mutants and P-cadherin, highlighted their importance in hair growth and pigmentation. Studies on hair aging identified genes involved in hair loss in women over 40. Additionally, the potential of keratinocyte precursors from iPS cells for hair follicle regeneration and the effectiveness of a parathyroid hormone analog in reversing chemotherapy-induced alopecia were explored. The document also discussed the role of cholesterol biosynthesis in cicatricial alopecia, the necessity of Wnt signaling for hair follicle initiation, and the effects of ATP-sensitive potassium channel blockers on hair growth. These findings collectively advanced the understanding of hair growth, alopecia treatment, and skin regeneration.
October 2022 in “BMC genomics” This study investigated adenosine-to-inosine RNA editing in the hair follicle cycle of Tianzhu white yak, identifying numerous editing sites and suggesting their involvement in pathways related to hair growth.
5 citations
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June 2020 in “Medicine” This report discusses a 22-year-old patient with MELAS syndrome carrying the m.10158T>C mutation, and highlights the need for extensive genetic testing when initial hot-spot mutation tests are negative.
42 citations
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July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
74 citations
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September 2006 in “Cell Cycle” This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.
30 citations
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January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.
12 citations
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February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
3 citations
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April 2025 in “Nature Communications” This study concluded that the GIANT brain atlas, which integrates genetic and neuroanatomical variations, provides a more accurate representation of brain structure than traditional neuroanatomical atlases, allowing for better exploration of genetic influences on the brain.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
March 2024 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that faster algorithms for inferring ancestry in genomic data can better capture historical and functional insights into genome variation than traditional methods in large datasets like the UK Biobank.
8 citations
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July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
23 citations
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December 2013 in “Molecules” This study found that the evodiamine derivative 2-16 exhibited the highest antitumor activity and a broad spectrum of activity against various human cancer cell lines, with improved solubility.
3 citations
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March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
45 citations
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February 2011 in “IOP Conference Series Materials Science and Engineering” This study developed a sensor that effectively measures Tl+ cation in solutions with a wide dynamic range and low detection limit, responding linearly within the concentration range 1.0 × 10−8 to 1.0 × 10−1M.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
130 citations
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January 2000 in “Nature biotechnology” 
4 citations
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December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
3 citations
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January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.