160 citations
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April 2008 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review outlines the complexities of understanding DHT biosynthesis and metabolism in the human prostate and reports no new findings, emphasizing the need for further research into the pathways involved.
57 citations
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April 2009 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that despite the presence of steroidogenesis inhibitors, CRPC tumor cells adapt to continue synthesizing androgens, suggesting a need for more effective androgen axis targeting.
4 citations
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December 2022 in “Frontiers in Endocrinology” This review discusses various treatment options for non-classic congenital adrenal hyperplasia due to 21α-hydroxylase and 11β-hydroxylase deficiencies without providing new clinical results.
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.
1 citations
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November 2023 in “iScience” In this study, researchers found that disrupting desmoglein 3 signaling in a mouse model of pemphigus vulgaris activates normally quiescent hair follicle stem cells, compromising their multipotency but prompting a regenerative response that restores stem cell function and structures.
6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
6 citations
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January 2010 in “Journal of Biochemical and Molecular Toxicology” This study found that the ID2 gene was highly expressed in bulge-derived keratinocytes when exposed to contact sensitizers and may serve as a marker to distinguish sensitizers from irritants during in vitro testing.
6 citations
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August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
December 2023 in “Forensic science international. Genetics” This study found that the RapidHIT™ ID system can successfully obtain DNA profiles from single hair roots, particularly those with high nuclei counts.
175 citations
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August 1997 in “Nature Genetics”
1 citations
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January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
This study found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.
29 citations
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March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
15 citations
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June 2019 in “Biochemical Journal” This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.
1 citations
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October 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that depleting HIF-P4H-2 in FoxD1-lineage cells in mice led to disrupted hair follicle development, resulting in truncal alopecia but normal cranial hair, suggesting its crucial role in hair homeostasis.
November 2024 in “Journal of Investigative Dermatology” Dermal IgA deposition without symptoms is rare in Dermatitis herpetiformis risk groups.
September 2023 in “Journal of the American Academy of Dermatology” In this study, no significant differences in hidradenitis suppurativa severity or testosterone levels were found between women with and without polycystic ovary syndrome, suggesting PCOS does not predict poor prognosis in HS patients.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” This article discusses the importance of routine karyotyping in patients with congenital adrenal hyperplasia, as it may reveal the presence of Turner syndrome and recommends early diagnosis and treatment; it reports no new clinical results.
August 2009 in “Mechanisms of Development” This study identified several genetic mutations linked to hereditary skin and hair disorders in consanguineous families from remote areas of Pakistan, enhancing understanding of the molecular basis of these conditions.
5 citations
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December 2014 in “Molecular cytogenetics” This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.
December 2021 in “Figshare” This study suggests that the downregulation of BBS7 in occlusal hypofunctional periodontal ligament impairs Shh signaling, which is essential for maintaining periodontal ligament homeostasis.
9 citations
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February 2019 in “Journal of Clinical Research in Pediatric Endocrinology” In this study, children with classical congenital adrenal hyperplasia were found to have increased epicardial fat thickness, which was associated with subclinical atherosclerosis markers and left ventricular dysfunction, especially in poorly controlled cases.
October 2020 in “Journal of the American Society of Nephrology” In this case study, drospirenone use masked the diagnosis of a rare form of congenital adrenal hyperplasia, suggesting a possible delay in detecting underlying endocrinopathies.
13 citations
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August 1985 in “The Journal of Dermatology” This study identified a monoclonal antibody, HKN-2, that recognizes specific cells in human skin and may indicate a common antigenic determinant between hair and other skin epithelial tissues.
57 citations
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January 1987 in “Journal of Biological Chemistry” This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.
September 2022 in “Frontiers in genetics” This case study reports a new LAMB3 mutation linked to junctional epidermolysis bullosa with severe urinary tract stenosis, outlining treatment challenges and expanding knowledge of EB-related urological complications.
1 citations
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September 2002 in “European Journal of Endocrinology” This case study reports the clinical features of triple H syndrome in a 25-year-old man, including ACTH deficiency, alopecia universalis, and anterograde amnesia, which were improved with hydrocortisone treatment.
September 2024 in “Frontiers in Genetics” In this study, researchers found a significant association between the rs13405699 SNP at 2q31.1 and male pattern baldness among Han Chinese men, suggesting genetic influence on this condition in this population.
43 citations
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September 2001 in “Annals of Neurology” This study found that somatic mosaic mutations in the doublecortin gene may cause subcortical band heterotopia in male patients, and molecular analysis using hair roots is a useful detection method.