4 citations
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February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
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.
3 citations
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September 2019 in “PLOS ONE” In this study, the authors identified the DHRS9 SNP rs72623193 as most significantly associated with response to dutasteride in treating male pattern hair loss, with additional variants potentially contributing.
2 citations
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June 2014 in “مجلة مركز بحوث التقنيات الاحيائية” This study reported that patients with PCOS and thyroid hormone disturbances had specific TPO gene mutations and differing thyroid hormone levels compared to those without disturbances or healthy controls.
1 citations
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September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
1 citations
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September 2015 In this report, two cases of non-small cell lung cancer treated with gefitinib showed unexpected hair growth, suggesting a potential new application of EGFR-TKIs for alopecia.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
January 2013 in “International Journal of Trichology” This case report highlights the discovery of a novel TRPS1 gene mutation in a 17-year-old with TRPS type I, underscoring the diagnostic importance of hair symptoms in congenital hair diseases.
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.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
November 2016 in “Therapeutic Delivery” New drugs for Alzheimer's and rheumatoid arthritis advanced, a Zika vaccine is in development, and there were business deals in anesthesia and oncology.
21 citations
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April 2016 in “International Journal of Oncology” This study found that treatment with the GnRH agonist Triptorelin significantly decreased invasion and expression of S100A4 and CYR61 in certain breast cancer cells, suggesting a potential role in slowing cancer progression.
109 citations
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January 1997 in “Journal of Experimental Botany” This paper discusses the cellular and molecular processes involved in root hair growth in higher plants, focusing on cytological phenomena and the effects of growth regulators and mutations, but reports no new experimental findings.
April 2020 in “Journal of the Endocrine Society” This case report describes the first known instance of a patient with myotonic dystrophy presenting with type I diabetes, Hashimoto’s thyroiditis, and follicular variant papillary thyroid cancer, suggesting a potential link between these conditions.
32 citations
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February 2008 in “Developmental dynamics” This study indicates that the Sp6 gene is crucial for the development of skin, teeth, limbs, and lungs in mice, possibly through regulating apoptosis.
24 citations
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July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
16 citations
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March 2013 in “The Journal of Dermatology” This case report identifies a novel mutation in a patient with trichorhinophalangeal syndrome 1 and reduced TRPS 1 protein expression in hair follicle tissues compared to normal subjects.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” This study identified a novel mutation in the EDA gene, which may impair protein stabilization and be involved in the development of oligodontia and mild ectodermal dysplasia phenotypes.
7 citations
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November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
6 citations
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November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
6 citations
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
1 citations
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January 2008 in “touchREVIEWS in Endocrinology” Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
42 citations
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November 2002 in “The American journal of pathology” This study observed that nuclear β-catenin expression in non-small-cell lung carcinomas correlates with increased proliferation and loss of key cell-cycle checkpoints, suggesting an oncogenic advantage.
26 citations
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November 2009 in “Journal of Endocrinological Investigation” This study found no significant difference in the CAG and GGN repeat lengths between infertile and fertile men in Nigeria, but identified a unique GGN allele distribution in the Nigerian population compared to Caucasians.
20 citations
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July 2013 in “European Journal of Oral Sciences” This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.
16 citations
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March 2011 in “Dermatologic Therapy” This study suggests that genetic variants in the androgen receptor gene may predict which postmenopausal women with hair loss respond to finasteride therapy.
11 citations
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March 2019 in “EMBO molecular medicine” This paper reviews the role of endoplasmic reticulum stress and the unfolded protein response in Hutchinson-Gilford progeria syndrome-related atherosclerosis, especially in vascular smooth muscle cells, but reports no clinical findings; intervention in these pathways is suggested as a potential therapeutic strategy.
7 citations
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March 2015 in “British Journal of Dermatology” Applying minoxidil can help improve hair growth in people with hair loss caused by LIPH gene mutations.