62 citations
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April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
13 citations
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September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This study found that a novel 15% topical minoxidil solution achieved a clinically significant hair regrowth response in 60% of women with female pattern hair loss who did not respond to 5% minoxidil, without increasing adverse events.
April 2017 in “Journal of Investigative Dermatology” This study reports a new optimized protocol for isolating and labeling single cells from neonatal mouse skin, enabling high-quality single cell RNA sequencing for lineage-specific cell analysis.
April 2017 in “Journal of Investigative Dermatology” This study found that hair follicle matrix progenitors differentiate into various layers asynchronously, with early progenitors forming the companion layer and later progenitors generating the inner root sheath and hair shaft.
April 2017 in “Journal of Investigative Dermatology” This study identified that in mice, sweat gland development is directed by mesenchymal signals that suppress SHH-production, while in humans, this occurs through a BMP spike in embryonic development.
April 2017 in “Journal of Investigative Dermatology” This study found that down-regulation of sonic hedgehog gene expression is a critical early event in chemotherapy-induced tissue damage in hair and feather follicles.
April 2017 in “Journal of Investigative Dermatology” In this pilot study, researchers observed a correlation between clinical severity and histologic severity of lichen planopilaris, suggesting that an immunohistochemical scoring system could aid in grading disease activity.
April 2015 in “Experimental Dermatology” Melanoma risk tools need improvement, certain gene mutations cause skin diseases and could be treated by targeting those mutations, skin wrinkling may relate to lung aging due to genetic factors, and oxidative stress affects hair loss but can be reduced in low oxygen.
September 1994 in “Otolaryngology-Head and Neck Surgery” This article contains news and announcements related to Otolaryngology–Head and Neck Surgery but provides no new research findings.
44 citations
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February 2012 in “The journal of neuroscience/The Journal of neuroscience” This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.
44 citations
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November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
28 citations
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August 2001 in “Journal of cutaneous medicine and surgery” This review discusses the increased incidence of dermatological conditions in individuals with Down's syndrome and explores potential links to immunological deficiencies, but reports no new clinical findings.
25 citations
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June 2013 in “Obesity Reviews” This review examines mesotherapy for local fat reduction, detailing its mechanisms, safety concerns, and the need for research toward FDA-approved uses, but reports no new clinical findings.
23 citations
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September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This case report describes successful CO2 ablation treatment of porokeratotic adnexal ostial nevus in an 8-year-old boy, with marked improvement over a 12-year follow-up.
22 citations
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April 1985 in “Australasian Journal of Dermatology” This review discusses the uncommon but potentially serious cutaneous reactions to beta-adrenergic blockers and the uncertain pathogenesis, with no new clinical results reported.
6 citations
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April 2013 in “Assiut Veterinary Medical Journal/Maǧallaẗ Asyūṭ al-ṭibiyyaẗ al-baytariyyaẗ” This study found that 67.11% of cats treated for otitis at Assiut University's Small Animal Clinic completely recovered, with ivermectin injections and topical treatments being commonly used.
5 citations
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November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
5 citations
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May 2011 in “European Journal of Medical Genetics” This case report describes a 44-year-old patient with late-onset partial lipodystrophy, mental retardation, epilepsy, ichthyosis, and glomerulonephritis, linked to a 10 Mb duplication of chromosome region 5q31.3-5q32.1.
4 citations
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December 2018 in “Case reports in endocrinology” This case study reported a postmenopausal woman with a testosterone-secreting ovarian tumor that was not detected through standard clinical or radiological examination but was found via biopsy.
2 citations
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January 2008 in “International Journal of Neuroscience” This article presents a case of delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old man and reviews clinical and laboratory findings associated with the disorder, reporting no new results.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
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.
March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.
August 2018 in “Journal of the American Academy of Dermatology” Patients often experience long-lasting changes to their hair after stem cell transplants.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
April 2017 in “Journal of Investigative Dermatology” This study found that the PON1 192 R allele was associated with an increased risk of psoriasis and altered lipid profiles in patients from Western Mexico.
April 2017 in “Journal of Investigative Dermatology” This study suggests that PKCß plays a critical role in modulating the dermal inflammatory microenvironment in response to dietary lipids in mice.