4 citations
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August 2021 in “Pediatrics in review” This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.
1 citations
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October 2025 in “Scientific Reports” This study reports that hedgehog pathway inhibitors, sonidegib and vismodegib, showed distinct adverse event patterns in real-world data, suggesting the need for further research to confirm these findings.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
30 citations
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January 1997 in “ILAR Journal” This review details the development and genetic background of senescence-accelerated mouse strains, provides a comprehensive examination of their phenotypes, and highlights their importance for aging research, but reports no new experimental results.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
21 citations
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September 2013 in “Pediatric Dermatology” This case report describes three patients with Netherton syndrome who experienced growth hormone deficiency and improved growth rates following growth hormone therapy.
13 citations
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September 2022 in “International Journal of Molecular Sciences” This study identifies five compounds, including gemcitabine and methylene blue, that inhibit SADS-CoV and suggests their potential for developing antiviral drugs against future outbreaks.
January 2025 in “Clinical Dermatology Review” In this case report, a 16-year-old female with Netherton syndrome, a rare genetic disorder, exhibited symptoms such as skin issues, hair abnormalities, and elevated serum IgE levels. The diagnosis was supported by skin biopsy, and treatment included topical therapies, NB-UVB, and infliximab.
7 citations
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January 1989 in “Archives of Dermatological Research” The side gland of Suncus murinus is a good model for studying human sebaceous glands.
2 citations
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April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
32 citations
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September 2003 in “European journal of oral sciences” This study found that individuals with ectodermal dysplasias often have a reduced secretion rate of submandibular saliva and altered protein concentrations, suggesting routine salivary tests may be beneficial in this population.
This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.
75 citations
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August 2018 in “Plant physiology” In this study, researchers found that increased hydrogen sulfide levels in Arabidopsis disrupted actin dynamics through S-sulfhydration, leading to the depolymerization of actin filaments and inhibited root hair growth.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
91 citations
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May 2003 in “PubMed” This study found that neuroactive steroids, through their interaction with the sigma1 receptor, influence the acquisition of cocaine's rewarding effects in mice, suggesting a role in drug addiction vulnerability.
75 citations
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October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
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.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
46 citations
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August 1977 in “Journal of Morphology” This study examined the unique structural features of sinus hair follicles in the shrew Sorex unguiculatus, which suggest a specialization for vibration sensing.
June 2026 in “International Journal of Drug Delivery Technology” In this study, researchers optimized fast-dissolving tablets of nifedipine using a systematic approach, resulting in formulations that demonstrated rapid disintegration, enhanced dissolution profiles, and improved solubility, potentially improving oral delivery for patients requiring poorly soluble antihypertensive medication.
87 citations
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March 2007 in “Biological Chemistry” In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.
18 citations
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August 2015 in “Biochemical and Biophysical Research Communications” This study found that the XEDAR receptor can activate the non-canonical NF-kB pathway involving p100 processing, which is regulated by interactions with TRAF proteins and specific kinases.
41 citations
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December 2008 in “Pediatric Dermatology” This case report indicates that trichoscopy may significantly improve the diagnosis of Netherton syndrome by noninvasively identifying typical hair abnormalities without the need to pull hair.
80 citations
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December 1996 in “Pain” This study found that spinal strychnine enhances low threshold tactile responses in cat dorsal horn neurons, which may mirror pain states in humans that are less responsive to opioid treatments.
208 citations
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November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
15 citations
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May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
2 citations
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November 2024 in “PLoS ONE” This study assessed breeding value estimation methods for Korean Sapsaree dogs, finding varied accuracy across BLUP approaches and identifying significant genomic regions affecting traits like body height and hair length. The researchers suggest these findings can enhance breeding strategies for this culturally significant breed.
June 2025 in “Formosa Journal of Sustainable Research” In this study, the NADES extract of mangkokan leaves (Polyscias scutellaria) demonstrated antibacterial activity against Escherichia coli and Staphylococcus aureus, with a total flavonoid content measured at 4.944 mgEQ/gSimplisia using the disc diffusion method.