35 citations
,
October 2017 in “Signal Transduction and Targeted Therapy” This study found that fibromodulin significantly reduces scar formation and boosts scar strength in rodent and porcine models, suggesting potential for FMOD-based therapies in cutaneous wound repair.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
15 citations
,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
15 citations
,
October 2012 in “Journal of child neurology” In this study, two unrelated Honduran patients with Sjögren-Larsson syndrome had the same genetic mutation but displayed different disease severities, suggesting that factors beyond the ALDH3A2 mutation influence clinical outcome.
14 citations
,
January 2025 in “Reproductive Medicine and Biology” This review emphasizes the importance of considering race and ethnicity-specific factors in diagnosing and treating polycystic ovary syndrome (PCOS) and calls for diagnostic criteria tailored to these differences.
7 citations
,
October 2012 in “S. Karger AG eBooks” This review discusses the similarities in clinical, endocrine, and ultrasonographic features between PCOS and other disorders with excessive androgen secretion, emphasizing the importance of accurate diagnosis but reports no new clinical results.
2 citations
,
November 2018 in “International journal of gynaecology and obstetrics” In this retrospective cohort study, no significant differences were observed in assisted reproductive outcomes among different PCOS phenotypes undergoing frozen-thawed embryo transfer.
1 citations
,
December 2015 in “Balkan Journal of Medical Genetics” This study found no significant difference in the prevalence of CYP21A2 mutations between couples with unexplained fertility problems and healthy controls, but identified an association between the c.290-13A/C>G mutation and clinical issues like hormone deviations and polycystic ovary syndrome.
January 2016 in “Journal of SAFOG” This study observed that androgenic hormone levels were higher in high school girls with PCOS phenotypes accompanied by menstrual disorders, particularly oligomenorrhea.
April 2024 in “Institutional Repositories DataBase (IRDB)” This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
19 citations
,
July 2015 in “Journal of inherited metabolic disease” This study observed that while betaine supplementation decreases total homocysteine and increases methionine levels in a mouse model of CBS deficiency, it is not as effective as methionine restriction in reversing associated phenotypes.
1 citations
,
May 2023 in “The Journal of Immunology” In this animal study, researchers discovered that CD4 T cells from mice with alopecia areata can induce the disease more efficiently than those from unaffected mice, likely by supporting CD8 T cell activation and hair follicle attack.
April 2026 in “npj Parkinson s Disease” This study found that VPS13C variants are significantly enriched in patients with idiopathic REM sleep behavior disorder (iRBD), associating these variants with more severe symptoms, autonomic dysfunction, and faster progression from iRBD to overt α-synucleinopathy in the iRBD-first disease subtype.
February 2024 in “BMC genomics” This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.
7 citations
,
March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
2 citations
,
June 2017 in “Journal of The American Academy of Dermatology” This article discusses the uncertainty regarding distinct skin findings and cardiometabolic profiles among PCOS subtypes and reports no new clinical data.
1 citations
,
January 2024 in “Pediatric Endocrinology Diabetes and Metabolism” In this retrospective study of eight Saudi children with hereditary vitamin D resistant rickets, researchers observed that adjunctive cinacalcet appeared safe and showed initial promise in improving serum PTH levels, though further investigation is needed to confirm its efficacy.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
688 citations
,
June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.
55 citations
,
April 2008 in “Clinical Genetics” This report identifies a novel mutation in the ST14 gene in a female with autosomal recessive ichthyosis with hypotrichosis, highlighting similar features to previously reported cases.
54 citations
,
May 2015 in “Endocrinology” In this study, manipulation of the enzyme 5α-reductase type 2 in human hepatocytes altered lipogenesis, suggesting clinical implications for patients using 5α-reductase inhibitors by affecting glucocorticoid action on hepatic lipid metabolism.
42 citations
,
September 2012 in “PLoS ONE” In this study, bezafibrate treatment improved certain aging-like features in a mouse model with mitochondrial dysfunction, but did not enhance muscle function or lifespan.
42 citations
,
September 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study found that women with PCOS who have an exaggerated 17-hydroxyprogesterone response to buserelin exhibit more severe hyperandrogenemia, increased insulin secretion, and reduced insulin sensitivity.
31 citations
,
September 1999 in “Molecular Carcinogenesis” This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
14 citations
,
May 2017 in “Journal of Investigative Dermatology” This study reports a novel homozygous mutation in the DST gene causing a unique form of epidermolysis bullosa simplex with prurigo papules in a 39-year-old Syrian man.
8 citations
,
March 2019 in “Journal of Biomedical Materials Research Part A” This laboratory study found that collagen matrices with high-sulfated hyaluronan may enhance the cultivation of human keratinocytes and melanocytes from hair follicles for epidermal graft development.
5 citations
,
April 2018 in “Journal of Dermatological Science” This study found that the E2-ANGPT2 pathway is involved in hair follicle regulation and that ANGPT2 treatment increased hair density in modeled female pattern hair loss, suggesting potential therapeutic use.
4 citations
,
February 2016 in “Experimental Dermatology” The researchers concluded that blocking α1-integrin altered adhesion and enhanced migration in adult fibroblasts, suggesting its potential as a target for therapies aimed at reducing fibrosis.
3 citations
,
April 2021 in “Cureus” In this study, 62.7% of patients with alopecia areata had deficient vitamin D levels, yet there was no significant link between these levels and specific alopecia areata patterns.