10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
35 citations
,
February 2023 in “Biomolecules” This review explores the role of Granzyme B in autoimmune skin diseases and highlights its potential as a therapeutic target due to its involvement in impaired barrier function and inflammation.
6 citations
,
January 2005 in “Biology of Blood and Marrow Transplantation” This article reviews various models of graft-versus-host disease, highlighting the complexity of its mechanisms and the challenges in interpreting histopathologic data; it reports no new results.
January 2001 in “Chinese Journal of Reparative and Reconstructive Surgery” This study found that endogenous EGF may play a role in epidermal development and wound healing, while the absence of bFGF in embryonic rats' skin could contribute to non-scar healing.
December 2017 in “Journal of Cosmetic Dermatology” This article does not contain an abstract, so it provides no new research findings or clinical results.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
1 citations
,
November 2024 in “Blood” This study found that inhibiting the PI3Kδ enzyme in murine models of cutaneous chronic graft-versus-host disease (cGVHD) reduced skin scores and fibrosis, prevented pathogenic lymphoid structures, and improved survival, suggesting it as a promising therapeutic approach to address the disease's hypoxic pathophysiology.
3 citations
,
September 2008 in “Current signal transduction therapy” This article reviews the role of glycogen synthase kinase-3 in various diseases and recent developments in GSK-3 inhibitors, without reporting any new clinical findings.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
21 citations
,
December 2015 in “Development Growth & Differentiation” This study introduces genital sex differentiation parameters (GSDP) to analyze sexual differences in external genitalia and perineum development in mice, revealing varied sensitivity to androgen inhibition in genital structures.
May 2023 in “Indian Journal of Dermatology” In this study, researchers observed temporary skin reactions at BCG vaccination sites following the Pfizer-BioNTech COVID-19 mRNA vaccine in five patients, suggesting underreported occurrences.
June 2026 in “International Journal of Molecular Sciences” This study suggests that black ginseng concentrate protects human follicle dermal papilla cells against oxidative stress, potentially offering a natural approach to prevent cellular dysfunction linked to hair loss.
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
December 2021 in “Figshare” This study found that BBS7 downregulation in occlusal hypofunctional periodontal ligament tissue is associated with reduced Sonic hedgehog signaling activity, potentially playing a key role in maintaining PDL homeostasis.
14 citations
,
January 2025 in “Biomaterials Research” This review discusses the use of bioactive glass in skin tissue repair and highlights its potential to aid wound healing through effects on inflammatory cells and tissue regeneration, but reports no new experimental findings.
8 citations
,
July 2015 in “International Journal of Dermatology” This study reports that a homozygous A1103G mutation in DSG 4 is responsible for localized autosomal recessive hypotrichosis in a 2-year-old Chinese girl, resulting in reduced DSG 4 expression and hair defects.
18 citations
,
April 1998 in “MIT Press eBooks” This study found that topical application of N,N-dimethylglycine sodium salt increased dermal blood flow and velocity in human subjects, likely through its effects on endothelial cells and NO-dependent vasodilation.
December 2021 in “Figshare” This study found that BBS7 is downregulated in occlusal hypofunctional periodontal ligament, suggesting it plays a crucial role in maintaining Shh signaling for PDL homeostasis.
1 citations
,
January 2016 in “Asian-Australasian journal of animal sciences” In this study, the expression of Gnαs was significantly higher in black mice compared to white mice, suggesting its potential involvement in coat color formation in mice.
January 2025 in “Dermatology Reports” This case report describes a 61-year-old Italian man with a rare, localized variant of junctional epidermolysis bullosa linked to the R795X mutation in the COL17A1 gene, highlighting the importance of precise diagnosis for effective management of rare genetic disorders.
18 citations
,
October 2021 in “Frontiers in Physiology” This review summarizes recent research on the molecular properties and functions of L-PGDS and PGD2, but reports no new findings, highlighting their pathophysiological roles and guiding future studies.
September 2021 in “Pediatrics in review” This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.
This study found that GPC1 is a significant regulator of angiogenesis in human dermal microvascular endothelial cells, suggesting its potential as a target for alopecia research.
51 citations
,
May 2019 in “Biomaterials” This study developed a method for generating germ-like tissues called bbHFGs, which efficiently promoted hair follicle formation in mice, potentially advancing hair regenerative medicine applications.
7 citations
,
April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
14 citations
,
October 2017 in “Gene Expression Patterns” This study generated a Dct-H2BGFP mouse model that allows for effective identification and isolation of melanocytic cells in vivo, facilitating research into their molecular and biological properties.
24 citations
,
June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
17 citations
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May 2007 in “British Journal of Dermatology” This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.
January 2025 in “Journal of Ethnopharmacology” This study found that external application of DGD activates the Wnt/β-catenin signaling pathway, promoting hair follicle anagen phase entry, and is a more effective and safer treatment for androgenetic alopecia in mice compared to oral administration.
7 citations
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May 2022 in “Cancers” This study found that UC.145 influences DKK1 methylation and Wnt signaling in gastric cancer, with implications for patient survival and its potential as a predictive biomarker.