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.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
4 citations
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May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
46 citations
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May 2011 in “Movement Disorders” This article contains additional supporting information available online but presents no new research findings.
39 citations
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May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
17 citations
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
5 citations
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
5 citations
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May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
24 citations
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January 2019 in “Science China Life Sciences” Chitosan/LiCl composite scaffolds help heal deep skin wounds better.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the peach gene CTG134, involved in auxin-ethylene interactions, plays a role in hormonal regulation during root hair formation in Arabidopsis and tobacco.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.
44 citations
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.
33 citations
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September 1990 in “Proceedings of the National Academy of Sciences” This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” In this study, researchers established that increased expression of the human GLI-1 gene in mouse skin leads to the development of tumors that closely resemble human basal cell carcinomas, without requiring additional mutations in the p53 or Ha ras genes.
58 citations
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July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
5 citations
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January 2001 in “Journal of dermatological science” In this study, researchers found that the G(S)alpha subunit is strongly expressed in neonatal mouse hair follicles, indicating it may play a role in initiating follicle growth.
37 citations
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January 1993 in “Journal of Investigative Dermatology” 380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” This study demonstrates that mice with ectopic expression of the human GLI-1 gene in their skin developed tumors resembling human basal cell carcinoma, suggesting that GLI-1 is central to tumor development without additional p53 or Ha ras mutations.
3 citations
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January 2025 in “动物学研究” This study used high-resolution imaging and genetic analysis to investigate hair density in the Dazu black goat, identifying key genes like GJA1 and GPRC5D involved in follicle development and maintenance, and highlighted their role in animal hair density regulation.
9 citations
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October 2017 in “Frontiers in plant science” This study found that the peach gene CTG134 mediates auxin-ethylene crosstalk, affecting root hair growth and hormone-regulated processes in plants.
6 citations
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January 2004 in “DNA Research” This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.
7 citations
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October 1985 in “Genetics Research” This study found that in chimaeric mice models, the pigment distribution and pattern were influenced by the sash genotype, demonstrating the melanocyte-autonomous nature of the beige and leaden loci.
6 citations
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December 2019 in “Frontiers in genetics” In this study, animal model observations suggested that GLI1 expression may reduce cSCC initiation but is not involved in the tumor's aggressiveness.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports the cloning and sequencing of two type II hair-specific keratin genes, ghHb1 and ghHb6, located on chromosome 12q13, which are expressed during hair growth.
29 citations
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January 2021 in “G3 Genes Genomes Genetics” This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.