This case series reports favorable outcomes for children with Parry Romberg Syndrome who underwent facial fat-grafting, showing it as a safe and well-tolerated procedure with no complications or relapses observed.
January 2025 in “JCEM Case Reports” This report describes two cases of glucocorticoid resistance syndrome highlighting genetic diversity; one patient improved with low-dose dexamethasone despite negative genetic testing, while the other is monitored with a novel NR3C1 variant.
3 citations
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February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
January 2012 in “RWTH Publications (RWTH Aachen)” This study found that patient-derived HGF significantly accelerates wound healing in diabetic mice, particularly improving skin structure and flexibility, and rHGF plays a key role in boosting hair growth.
7 citations
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December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
49 citations
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April 1997 in “Human reproduction” This study found that both a high dose of CPA and GnRHa are effective for treating hirsutism in hyperandrogenic women, but GnRHa with add-back therapy may lead to a longer remission period.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
This study presents the G4 transgenic mouse model, which suggests a direct link between polycystic ovary syndrome and the Gm10800 gene, offering a valuable tool for understanding the disease and testing treatments.
July 2024 in “Journal of Investigative Dermatology” PRP preparation partially activates platelets, causing varied growth factor release.
November 2022 in “Journal of Investigative Dermatology” This study found that human scalp hair follicles produce neurohormones and responded to GHRH stimulation by prolonging hair growth, suggesting a functional peripheral HPS neuroendocrine signaling axis in the skin.
September 2021 in “Physiology News” This abstract contains only graphic design specifications and reports no new research findings.
9 citations
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May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
69 citations
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December 2015 in “BMC plant biology” This study provides evidence that five Hyp-O-GALT genes are crucial for AGP galactosylation and that AGP glycans are vital for various aspects of plant growth and development.
57 citations
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May 2014 in “Molecular Phylogenetics and Evolution” This study utilized a sequence-structure alignment approach to improve the characterization of Class A Rhodopsin GPCR superfamily, including orphan and unclassified receptors, through evolutionary analysis.
11 citations
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January 2015 in “Journal of cellular physiology” This study suggests that abnormal hair cycles in Hr mutant mice may be caused by HR protein overexpression, which down-regulates miR-31 and increases Tgf-β2 expression.
37 citations
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June 2004 in “Human molecular genetics online/Human molecular genetics” This study suggests that the HCR risk allele within the PSORS1 locus may contribute to psoriasis susceptibility by altering gene expression related to skin structure and differentiation, although these changes alone might not result in clinical symptoms.
166 citations
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July 1999 in “American Journal Of Pathology” This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.
96 citations
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October 1987 in “The Journal of Clinical Endocrinology & Metabolism” This study found that long-term GnRH agonist administration in premenopausal women with polycystic ovarian disease resulted in persistent suppression of ovarian steroid secretion, while adrenal steroid levels remained unchanged.
112 citations
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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.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
October 2024 in “Journal of the Endocrine Society” This case report highlights that a patient with resistance to thyroid hormone was misdiagnosed as having Graves’ disease, leading to unnecessary radioactive iodine treatment.
2 citations
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June 2021 in “Bezmialem Science” This study found that using a centrifugation speed of 1800 rpm for 10 minutes is optimal for preparing platelet-rich plasma with PRPBAG®, yielding an eightfold increase in platelet concentration.
52 citations
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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.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
1 citations
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July 2024 in “Journal of Investigative Dermatology” Plaquenil can cause a severe skin reaction called AGEP, requiring prompt diagnosis and treatment.
52 citations
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April 2013 in “Developmental Cell” This study found that Brg1, a chromatin-remodeling enzyme, plays a critical role in hair regeneration and early epidermal repair by regulating bulge stem cells through a Brg1-Shh interaction.
January 2024 in “Frontiers in endocrinology” This study found that women treated with GnRHa for central precocious puberty had a higher prevalence of polycystic ovary syndrome in adulthood compared to those with isolated premature thelarche.
12 citations
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April 2019 in “Scientific Reports” This study found that HMGB1 enhanced hair growth by stimulating PGE2 production in human dermal papilla cells, suggesting a potential therapeutic target for alopecia treatment.
16 citations
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May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
25 citations
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July 2024 in “Frontiers in Pharmacology” Gepant medications for migraines show varied safety profiles in this study, with specific adverse events reported across systems like gastrointestinal and skin disorders, highlighting the need for tailored treatment and monitoring.