April 2015 in “Journal of Nutritional Therapeutics” This study found that a more liberal intake of restricted amino acids in patients with methylmalonic acidemia resulted in improved growth and fewer illness episodes.
September 2017 in “Journal of Investigative Dermatology” This study found that certain circulating miRNAs in skin and plasma may serve as potential biomarkers for distinguishing frontal fibrosing alopecia from control cases, highlighting the need for further validation in larger cohorts.
16 citations
,
August 2000 in “British Journal of Dermatology” In this case report, lichen myxedematosus associated with hepatocellular carcinoma showed progressive improvement in skin lesions without further treatment following tumor resection.
35 citations
,
August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
December 2024 in “Livers” This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.
1 citations
,
August 2023 in “Advanced Drug Delivery Reviews” This review discusses various microneedle technologies for long-acting drug delivery, highlighting design considerations and challenges in bringing these minimally invasive devices to market, but it reports no new clinical results.
1 citations
,
September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
2 citations
,
December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
1 citations
,
September 2020 in “Journal of dermatology” This study identified a novel mutation and confirmed a previous mutation in the LIPH gene in a woman with autosomal recessive woolly hair, expanding the mutation spectrum for this condition.
5 citations
,
January 1998 in “Clinical and experimental dermatology” This article discusses the late presentation of myotonic dystrophy but reports no new clinical findings.
14 citations
,
August 2021 in “Journal of Pharmaceutical Sciences” This study found that cholesterol- and phospholipid-free multilamellar niosomes improved skin deposition and targeted deeper hair follicles better than hydrophobic PLGA nanoparticles for transdermal drug delivery.
November 2018 in “Journal of dermatology & cosmetology” This manuscript reports on the first case of perforating necrobiosis lipoidica in Colombia, marking the 19th documented case worldwide.
477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” This study reports that the DMI3 gene, essential for nodule formation in legume-rhizobial symbiosis, encodes a calcium/calmodulin-dependent protein kinase, highlighting its role in multiple plant symbioses.
April 2023 in “Journal of Investigative Dermatology” RNase L suppresses regeneration in mammals.
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.
3 citations
,
July 2024 in “Journal of Vascular Diseases” This review compiles existing research on ischemia-modified albumin (IMA) as a biomarker for myocardial ischemia, highlighting current gaps in understanding its formation and detection, with no new clinical results reported.
October 2022 in “Frontiers in Genetics” This study found that miRNAs increase and target mRNAs and lncRNAs decrease from the anagen to telogen phase in mouse hair follicles, and these ceRNA networks may play a role in hair follicle cycling.
3 citations
,
March 2024 in “Journal of the American Academy of Dermatology” Low-dose naltrexone helps improve symptoms and stabilize frontal fibrosing alopecia and lichen planopilaris.
1 citations
,
October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
1 citations
,
July 1991 in “PubMed” This case report describes a patient with adrenomyeloneuropathy, highlighting unusual MRI findings of high signal areas in the right striatum.
This study suggests that specific mutations in the MFN2 gene, including the p.Arg707Trp allele, can result in tissue-selective mitochondrial dysfunction leading to excessive upper body fat growth and low leptin levels.
16 citations
,
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.
3 citations
,
December 2024 in “Journal of Animal Science” In this study, researchers identified the lncRNA MSTRG.14227.1 in cashmere goats and found it inhibits the morphogenesis of secondary hair follicles by interacting with the chi-miR-433/ADAMTS3 signaling axis, affecting cashmere yield and quality.
51 citations
,
October 2019 in “Cells” This study reported that inhibiting the JAK-STAT pathway with baricitinib restored cellular homeostasis, delayed senescence, and reduced proinflammatory markers in Hutchinson-Gilford progeria syndrome cell models.
32 citations
,
July 2017 in “Oncotarget” This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.
4 citations
,
August 2024 in “Non-coding RNA Research”
Among Super Merino and Small-Tailed Han sheep, this study identified differentially expressed long non-coding RNAs and mRNAs linked to hair follicle growth and fiber traits, suggesting their potential roles in regulating these important wool characteristics through RNA sequencing and gene enrichment analyses.
8 citations
,
July 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified four circulating microRNAs as highly predictive of frontal fibrosing alopecia status, suggesting potential roles in diagnostics and disease understanding.
February 2025 in “Advanced Composites and Hybrid Materials” This study reported that in animal studies of androgenetic alopecia, a biodegradable microneedle patch releasing glutamic acid promoted hair regeneration more effectively than daily minoxidil, with higher hair follicle counts and less frequent dosing, showing the potential for clinical application.