4 citations
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” This report highlights a case of adrenoleukodystrophy, a rare disease, diagnosed in a young boy with neuropsychiatric symptoms and Addison's disease, stressing the importance of early diagnosis and genetic counseling.
November 2024 in “Benha Journal of Applied Sciences” In this study, the researchers explored how the loss of structural integrity in hair follicles due to reduced α-SMA expression in the vertex area may contribute to androgenetic alopecia.
11 citations
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March 2013 in “Gene” This study reported that the IL1A 4-bp indel polymorphism is associated with a reduced risk of alopecia areata in Chinese populations, possibly through miR-122 mediated regulation of IL-1α expression.
9 citations
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April 2005 in “PubMed” This study found that diffuse alopecia in female squirrel monkeys is associated with chronic telogen effluvium and appears to be predominantly age-related, potentially serving as an animal model for human diffuse alopecia.
46 citations
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April 1987 in “Brain Research” This study suggests that hair-follicle afferent axons can be presynaptically inhibited by boutons containing the enzyme glutamic acid decarboxylase, which is linked to the synthesis of γ-aminobutyric acid.
56 citations
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October 2007 in “Journal of Biological Chemistry” This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.
May 2010 in “Europe PMC (PubMed Central)” This chapter discusses the synthesis and analysis of near-infrared fluorescent activity-based probes for imaging cysteine protease activity, reporting potential benefits for disease diagnosis but noting challenges in imaging specific locations with high cathepsin activity.
10 citations
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March 1997 in “Pediatric Dermatology” This case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
June 2023 in “SPIRE - Sciences Po Institutional REpository” This study suggests that extracellular vesicles from prostate cancer cells could aid in identifying tumor heterogeneity and serve as biomarkers, while also playing a role in SARS-CoV-2 infection in nasopharyngeal mucus.
40 citations
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November 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the S100A3 gene is exclusively expressed in hair follicle cells differentiating into hair shaft components in mice, suggesting its important role in hair formation.
4 citations
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December 2020 in “Mammalian genome” This study found that pelage abnormalities in Harlequin mutant mice are linked to severe AIF deficiency and associated with altered expression of genes related to hair structure.
53 citations
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October 2014 in “Free radical biology & medicine” This study found that oxidative damage is present in the mitochondria of PolG mice, which exhibit premature aging-like phenotypes due to mitochondrial dysfunction.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” The authors reviewed cases of six children with both hair-shaft abnormalities and neurological disorders, noting that such hair defects may indicate neurological conditions, including potentially treatable metabolic errors.
10 citations
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October 1992 in “PubMed” This case study suggests that thrombosis was related to anti-phospholipid antibody in a woman with systemic lupus erythematosus, characterized by multiple aseptic bone necroses and arterial blockages.
December 2025 in “Egyptian Journal of Basic and Applied Sciences” This study found that the JAK1 rs310241 AG genotype is associated with a 4.6-fold increased risk of alopecia areata, whereas JAK2 polymorphisms showed no significant link, suggesting a potential genetic susceptibility factor warranting further research.
43 citations
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April 2010 in “Clinical genetics” This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.
January 2014 in “生命科学(ISSN1934-7391)” A certain gene variation can affect protein production and is linked to male pattern baldness.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
60 citations
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July 2014 in “Autophagy” This study found that autophagy is impaired in Birt-Hogg-Dubé syndrome-associated renal tumors and identified that the FLCN protein interacts with key autophagy components regulated by ULK1.
6 citations
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December 2022 in “Journal of Infection” In this study, the ACE1 rs1799752 polymorphism was not found to predispose COVID-19 survivors to long-COVID symptoms, supporting previous findings that ACE2 and TMPRSS2 variants also do not influence post-COVID conditions.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
33 citations
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February 2012 in “British Journal of Dermatology” This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
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.
115 citations
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October 2003 in “Journal of Neuroscience” This study found no evidence supporting the hypothesis that Aβ afferents sprout into the superficial laminas of the spinal cord after nerve injury in rats.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
September 1998 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Hair changes could indicate neurological diseases and help monitor treatment.
1 citations
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May 2025 in “The Journal of Rheumatology” This case report highlights the challenge of distinguishing between neuropsychiatric lupus and rituximab-associated progressive multifocal leukoencephalopathy in systemic lupus erythematosus patients, emphasizing the importance of early recognition and careful management.
This study presents a case of neuropsychiatric lupus in a 50-year-old woman, highlighting the severe impact on quality of life and the necessity for aggressive treatment to improve outcomes.