25 citations
,
November 2008 in “Facial Plastic Surgery” This article explores factors in designing a personalized hairline, favoring a flared design approach, and reports no new evidence.
24 citations
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May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
24 citations
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March 2007 in “International Journal of Dermatology” This study translated and culturally adapted the Skindex-16 questionnaire into Arabic, finding it to be a reliable and valid measure of quality-of-life impacts from skin diseases in Saudi patients.
24 citations
,
July 1994 in “Molecular Endocrinology” Researchers found an RNA transcript that might help control a growth factor linked to tumor development.
23 citations
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December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
23 citations
,
April 2017 in “Clinical, Cosmetic and Investigational Dermatology” This review discusses the importance of recognizing and treating psychiatric conditions in dermatology patients, offering practical recommendations for dermatologists to manage psychocutaneous diseases effectively, but reports no new clinical results.
23 citations
,
December 2013 in “British Journal of Dermatology” This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
23 citations
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June 2012 in “PLOS ONE” This study found that KLF4 expression in mouse hair follicle stem cells is important for effective cutaneous wound healing, with its knockdown leading to reduced stem cell populations and delayed healing.
22 citations
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December 2016 in “PloS one” In this study, researchers found that the EDMTFH protein is present in specific layers of the chicken embryo skin and feathers, suggesting its role in feather mechanics and development.
22 citations
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July 2012 in “Journal of integrative agriculture/Journal of Integrative Agriculture” This study found that Hoxc13 gene expression, influenced by melatonin, was associated with hair follicle activity in Cashmere goats, with in vitro evidence suggesting effects on genes relevant to follicle development.
22 citations
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August 2006 in “Critical Reviews in Plant Sciences” The tropical legume Sesbania rostrata can form nodules in waterlogged conditions using a different method that involves plant hormones and specific genes.
20 citations
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February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
20 citations
,
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.
19 citations
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March 2018 in “Journal of Investigative Dermatology” This study indicates that transient Msx2 expression is critical for wound-induced hair follicle neogenesis, with distinct phases in the healing process essential for epidermal competence and hair regeneration.
19 citations
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March 2017 in “Scientific Reports” This study suggests that the protease HAT-L4 plays a significant role in maintaining epidermal barrier function to prevent body fluid loss, as its absence in mice led to increased fluid loss and higher mortality.
18 citations
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January 2020 in “Acta dermato-venereologica” This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.
18 citations
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April 2016 in “Endocrinology and Metabolism Clinics of North America” This review discusses the diagnostic challenges of PCOS in adolescents, noting that the persistence of hyperandrogenism and oligomenorrhea is required for diagnosis, while genetic studies suggest involvement of the hypothalamic-pituitary-ovarian axis.
17 citations
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November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
16 citations
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July 2012 in “Current pharmaceutical biotechnology” This review discusses the pathogenesis of common sebaceous gland diseases and their molecular pathways, but it reports no new clinical findings.
15 citations
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February 2015 in “Cell & tissue research/Cell and tissue research” This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.
15 citations
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December 2013 This study found that in men with androgenic alopecia, moderate to severe cases were associated with the AA genotype of rs1160312, blood vanadium concentrations, and regular consumption of soy bean drinks.
15 citations
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January 2010 in “Reproduction, Fertility and Development” This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.
15 citations
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April 2008 in “Steroids” This study found that pregnane derivatives with higher lipophilicity, like compound 9d, had stronger androgen receptor binding and greater antiandrogenic effects in rats, correlating relative binding affinity with log P values.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
14 citations
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January 2018 in “Endocrine” This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
14 citations
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March 1995 in “Journal of cell science” This study found that targeting SV40 T antigen expression to hair follicles in transgenic mice caused abnormal hair structure and hair loss, but did not lead to cell immortalization or tumor formation in follicles.
13 citations
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August 2017 in “Scientific reports” This study designed a 66 K SNP chip using solution hybrid selection for cashmere goats, reporting SNP call rates between 95.3% and 99.8% and demonstrating its utility in genomic analyses, suggesting potential application for other species.