January 2023 in “Indian Dermatology Online Journal” This review discusses the role of the JAK/STAT pathway in managing alopecia areata and emphasizes the need for further research to determine the ideal JAK inhibitor, as it reports no new clinical results.
18 citations
,
August 2024 in “eLife” This study investigated immune dysregulation in individuals with Down syndrome and found that treatment with the JAK inhibitor tofacitinib improved skin conditions like alopecia areata and reduced autoimmune markers without severe side effects. Additional research is necessary to understand its broader impacts.
15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
2 citations
,
December 2024 in “eLife” This study observed that individuals with Down syndrome exhibit early immune dysregulation, including multi-organ autoimmunity and hypercytokinemia, and found that the JAK inhibitor tofacitinib showed a good safety profile and reduced skin pathology in a Phase II trial.
1 citations
,
November 2022 in “Anais Brasileiros de Dermatologia” This study found that hospitalized pediatric COVID-19 patients frequently display skin, mucosal, and nail manifestations, particularly periorbital erythema and edema, and the authors suggest COVID-19 be considered among childhood viral exanthem rashes.
1 citations
,
October 2022 in “Current Dermatology Reports” This review discusses various skin reactions after SARS-CoV-2 infection and COVID-19 vaccination, noting a higher incidence with mRNA vaccines than adenovirus vector vaccines, and reports no new clinical results.
489 citations
,
November 2021 in “Signal Transduction and Targeted Therapy” This review discusses the composition, activation, and regulation of the JAK/STAT pathway and highlights its role and inhibitors in various diseases, but reports no new experimental results.
277 citations
,
December 2019 in “Frontiers in Immunology” This review discusses the immunological basis and development of Janus kinase inhibitors for treating skin diseases and reports no new clinical findings.
95 citations
,
September 2019 in “Brain” In this study, two patients with refractory juvenile dermatomyositis improved clinically and in disease activity after receiving the JAK inhibitor tofacitinib, showing potential effects in managing the condition.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.
189 citations
,
March 2018 in “Human Reproduction Update” This study reported that women with polycystic ovary syndrome had a higher prevalence of impaired glucose tolerance and type 2 diabetes, with variations influenced by ethnicity and obesity.
141 citations
,
February 1988 in “Molecular and Cellular Biology” This study found that despite strong homology between two K16 genes, only one encoded a functional protein that assembled into keratin filaments in epithelial cells, possibly due to promoter strength differences.
139 citations
,
December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
130 citations
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April 2003 in “Journal of Investigative Dermatology” This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.
125 citations
,
August 1992 in “Development” This study found that implanting isolated adult rat dermal papillae into ear cuts led to the emergence of unusually large vibrissa-type hair follicles, demonstrating their capacity to induce specific hair fiber characteristics.
124 citations
,
July 2017 in “eLife” This study found that COL17 deficiency in neonatal mice causes abnormal skin cell proliferation due to disrupted Wnt signaling, while replenishing or overexpressing COL17 can reverse this effect in both neonatal and aged skin.
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.
100 citations
,
June 2002 in “Diabetologia” This study found that parents of women with PCOS have a higher prevalence of insulin resistance and Type II diabetes than parents of healthy women.
100 citations
,
November 1997 in “Human Genetics” In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
96 citations
,
February 2007 in “The Journal of Clinical Endocrinology & Metabolism” This review discusses the high prevalence of androgen excess and PCOS in women with type 1 diabetes but reports no new clinical findings; the authors highlight the underdiagnosis of hyperandrogenism in these patients.
89 citations
,
February 1993 in “Journal of Medicinal Chemistry” This research article focuses on nonsteroidal inhibitors of human type I steroid 5-alpha-reductase but reports no new results.
80 citations
,
June 2002 in “Molecular Biology of the Cell” This study found that type II keratins in proliferating epithelial tissues are phosphorylated at a conserved motif during mitosis and stress, impacting keratin solubilization and reorganization.
79 citations
,
March 2005 in “Journal of Medical Genetics” This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.
77 citations
,
March 2000 in “Journal of Investigative Dermatology” The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
76 citations
,
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.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
70 citations
,
February 2007 in “Journal of Investigative Dermatology” K39 and K40 are the last keratins expressed in hair development, completing the hair keratin catalog.
70 citations
,
December 2004 in “Differentiation” This study identifies six novel keratin genes from the chromosome 17q21.2 region, suggesting their association with hair follicles, while all 27 keratin genes in the domain have been characterized transcriptionally.
67 citations
,
February 1997 in “Teratology” This study demonstrated that high oral doses of finasteride caused external genital abnormalities in male rhesus monkey fetuses, but intravenous doses did not lead to abnormalities.