This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
14 citations
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September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, researchers developed a non-invasive, partially automated protocol for extracting DNA from marmoset hair follicles, resulting in high-quality whole genome sequencing with low chimerism levels, making it a reliable method compared to blood DNA sequencing in these primates.
5 citations
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November 1979 in “PubMed” This study reported that 19 out of 29 examined individuals from a family spanning seven generations exhibited the distinctive symptoms of hypotrichosis congenita hereditaria Marie Unna type.
June 2026 in “arXiv (Cornell University)” This study proposes a new test for genome-wide association studies that incorporates Hardy-Weinberg equilibrium into SNP analysis, demonstrating improved power and interpretability over traditional methods, as evidenced by simulations and an alopecia study dataset.
10 citations
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November 2017 in “Journal of Investigative Dermatology” In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.
64 citations
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October 2018 in “Thérapie” This report describes the enhancement of the French SNIIRAM/SNDS healthcare database through external data linkages, highlighting its potential use in medical research despite complexities in the integration process.
March 2005 in “Journal of the American Academy of Dermatology” Recognizing minor skin lesions can help identify serious cancer syndromes.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
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.
25 citations
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June 1998 in “Biological Trace Element Research” This study found that young healthy women with a family history of noninsulin-dependent diabetes mellitus exhibited higher zinc and lower copper concentrations in hair compared to those without such a family history, suggesting a possible Cu-Zn antagonism.
3 citations
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January 2013 in “Dermatology” This study identified novel compound heterozygous mutations in the hairless gene among a non-consanguineous Chinese family with congenital atrichia, illustrating phenotypic variations due to founder or modifier genes.
32 citations
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May 1986 in “Archives of Dermatology” This case study suggests that atrichia with papular lesions associated with common variable immunodeficiency may follow an autosomal-dominant inheritance pattern, differing from previous reports of autosomal recessive inheritance.
3 citations
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June 2002 in “PubMed” This case report describes the diagnosis of Netherton's syndrome in two young sisters, attributing their serious erythrodermia, poor hair growth, and atopic conditions to this hereditary condition.
June 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This study reviews the traditional and emerging medicinal uses of Clitoria ternatea Linn., highlighting its extensive chemical composition and potential health benefits, but notes the lack of human trial evidence and the need for better testing methods to ensure consistent quality and efficacy.
12 citations
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March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
June 2025 in “Revista Ciencia Multidisciplinaria CUNORI” In this study, 86% of pregnant women with SARS-CoV-2 received timely thromboprophylaxis based on their sepsis-induced coagulopathy scores, with most scoring between one and two.
9 citations
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August 2013 in “PLOS ONE” This study validated that the 20p11 genetic locus is associated with increased risk of androgenic alopecia in the Chinese Han population, suggesting shared genetic factors between Chinese and European populations.
1 citations
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November 2018 in “Journal of pathology and translational medicine” Fetal death was caused by umbilical cord stricture with hair growth in the Wharton jelly.
December 2025 in “EMBO Reports” This review discusses how stem and progenitor cells communicate to synchronize their differentiation responses, highlighting the challenges in identifying these mechanisms and surveying new technologies that may overcome these obstacles.
7 citations
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February 2011 in “Journal of dermatology” This study identified a specific LIPH gene mutation (736T>A) as common in Japanese patients with autosomal recessive woolly hair/hypotrichosis, potentially indicating its role in the condition's manifestation within this population.
21 citations
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January 2008 in “Journal of Pediatric Endocrinology and Metabolism” This study found that combined treatment with anastrozole and cyproterone acetate improved the adult height prognosis in testotoxicosis, as observed in two brothers, with good tolerance reported.
20 citations
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January 1998 in “Dermatology” This report highlights a case of acne neonatorum in a newborn boy, linking it to familial hyperandrogenism, and emphasizing the importance of family history and maternal hyperandrogenism in diagnosis.
1 citations
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December 2019 in “Acta Medica Medianae” This article discusses connubial contact dermatitis, emphasizing its frequent misrecognition and the importance of identifying and eliminating the underlying causes for effective treatment.
1 citations
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October 2024 in “European Journal of Histochemistry” In this study, researchers reported telocytes in the dermis of silky fowl embryos at different developmental stages, highlighting their immunophenotypes and interactions with other cells.
November 2025 in “Interdisciplinary materials” This study reports that a silk-based suture with integrated silver nanoparticles and curcumin shows potential for enhanced wound healing and infection prevention, offering multifunctionality and real-time wound monitoring capabilities.
9 citations
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February 2002 in “PubMed” This study identified a novel mutation in the coproporphyrinogen oxidase gene, contributing to hereditary coproporphyria in a family, with decreased enzyme activity observed in the affected members.
November 2025 in “Frontiers in Oral Health” This case study highlights the novel occurrence of a genian fistula with intraoral hair follicle inclusion in a patient without prior facial surgery, emphasizing the need for a comprehensive approach combining clinical, radiologic, and histopathologic analysis for accurate diagnosis and management.
15 citations
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January 1991 in “Mammalian Genome”
4 citations
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December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.