8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” This article discusses a novel mutation in the FERMT1 gene identified in a Spanish family with Kindler’s syndrome but reports no new clinical results.
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.
6 citations
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August 2024 in “BMC Ophthalmology” This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
5 citations
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January 2011 in “Archives de Pédiatrie” This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.
4 citations
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October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
1 citations
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January 2017 in “International Journal of Trichology” This case report describes a 6-year-old girl diagnosed with monilethrix, experiencing hair fragility and loss after a fever, and showing improvement in hair density following treatment, despite persistent symptoms.
1 citations
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September 2016 in “Journal of Dermatology” This letter to the editor discusses the prevalence of frontal-vertex baldness and its association with family history in Korean men but reports no new findings.
1 citations
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August 2004 in “Veterinary Dermatology” In this study, three closely related Siamese cats were diagnosed with feline psychogenic alopecia, indicating the disorder may have a hereditary component.
March 2026 in “Journal of Investigative Dermatology” This quality improvement initiative at Children’s Hospital of Orange County seeks to increase awareness and use of nonprofit pediatric wig programs by at least 50% over three months through educational interventions.
January 2026 in “MDPI (MDPI AG)” This study revealed that heterozygous mice with the hairy ear mutation exhibited significant gene expression changes related to hair growth, such as upregulation of hair keratin and keratin-associated proteins, shedding light on the Hoxc gene cluster's role in this phenotype.
December 2025 in “International Journal For Multidisciplinary Research” This study examined the hair structure of five Muridae species to provide insights into their distinct pelage characteristics.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
July 2025 in “International Journal of Molecular Sciences” This genetic study identified four new keratin-associated protein genes in sheep, revealing significant sequence variation and suggesting complex evolutionary dynamics, with unique variants in some sheep breeds linking them to Romanov sheep ancestry.
December 2024 in “Chinese Journal of Dermatology” This study reported that female patients aged 20-30 with androgenetic alopecia had higher serum DHT levels compared to healthy individuals, and those with a family history of the condition experienced earlier onset than those without it.
November 2024 in “The Medical Journal of Australia” This personal account described enduring long COVID symptoms for four years following a COVID-19 infection, significantly impacting the author's career, lifestyle, and mental health, ultimately leading to early retirement and a move to a low-maintenance living community.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
May 2023 in “Siriraj Medical Journal” This study demonstrated that the Thai version of the FDLQI is a valid and reliable tool for assessing the quality of life of family members of patients with dermatological diseases.
March 2022 in “Journal of Survey in Fisheries Sciences” This review discusses the diverse phytochemical constituents and medicinal applications of Asteraceae family plants, noting their significance in traditional and modern medicine, but provides no new clinical results.
December 2019 in “Ukrainian Journal of Veterinary and Agricultural Sciences” This study found that examining the microscopic and ultramicroscopic structures of donkey and horse hair can help differentiate between the species based on distinct differences in hair cuticle and brain substance patterns.
This study identified a novel E413K mutation in the hHb6 gene in a Chinese Han family with monilethrix, potentially linked to the characteristic moniliform hair structure.
January 2014 in “Theriogenology” This study found that blocking neurosteroid synthesis in the brain of pregnant sheep elevated HPA axis activity, suggesting neurosteroids play a vital role in moderating stress response.
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.
September 2009 in “Encyclopedia of Life Sciences” This paper discusses the role of the KRTAP gene family in the evolution of mammalian hair and its potential link to hair-related disorders, but reports no new research findings.
This review summarizes the roles of PDGF and its receptors in cell development and wound healing, reporting no new research findings; the authors emphasize PDGF's diverse biological functions.
January 2006 in “Journal of Clinical Dermatology”