April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
December 2006 in “Annales D Endocrinologie” This article reviews clinical and treatment aspects of hyperandrogenism in women, emphasizing the roles of diagnostic practices, combined oral contraceptives, and cyproterone acetate, but introduces no new findings.
181 citations
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January 2009 in “Nature Genetics” In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
124 citations
,
September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
76 citations
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September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
27 citations
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June 2020 in “Genes” This study identified multiple loss of function variants in the HR gene linked to the unique hair coat phenotype in lykoi cats, also known as werewolf cats.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.
21 citations
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March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
10 citations
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November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
3 citations
,
December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
3 citations
,
April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
1 citations
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September 2021 in “Frontiers in genetics” This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a mutation in the CST6 gene linked to a rare syndrome with symptoms affecting hair and skin, revealing cystatin M/E's role in maintaining epidermal homeostasis and hair follicle development.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
845 citations
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February 2001 in “The Journal of Clinical Endocrinology & Metabolism” This study identified the presence of the enzyme 1 alpha-hydroxylase in various extrarenal tissues, suggesting its potential role in modulating vitamin D function in peripheral tissues.
158 citations
,
November 1998 in “Cell” β-catenin affects hair growth and can lead to tumors, needing more research for better understanding.
87 citations
,
September 2006 in “Clinical Cancer Research” This article reviews the diverse roles of protein kinase C (PKC) isozymes in cancer biology, highlighting their potential as therapeutic targets, but reports no new experimental results.
70 citations
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April 2020 in “Journal of Molecular Cell Biology” This review summarizes recent advances in organoid technology for generating tissue models from the three germ layers and reports no new experimental results.
55 citations
,
November 2019 in “Cellular and Molecular Gastroenterology and Hepatology” This study found that oral biotin supplementation improved outcomes in a mouse model of inflammatory bowel disease by reducing inflammatory cytokine production and enhancing intestinal barrier integrity, suggesting potential therapeutic benefits for IBD patients.
51 citations
,
March 2006 in “Bioorganic & Medicinal Chemistry” This study screened synthesized pyridinecarboxamides for antitumor properties and found that many, particularly 5c and 7a, showed moderate in vitro activity against various human tumor cell lines.
29 citations
,
March 2012 in “Stem Cell Research & Therapy” This article explores questions about dormant hematopoietic stem cells and suggests avenues for future research, but does not present new experimental results.
23 citations
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August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This article reviews the roles of lesser-known secreted phospholipase A2 isoforms in various biological processes, such as immune suppression, metabolic regulation, epidermal hyperplasia, and male reproduction, without reporting new clinical findings.