21 citations
,
March 2019 in “Critical Reviews in Clinical Laboratory Sciences” This review discusses the role of the androgen receptor in breast cancer diagnosis and treatment, and notes a lack of new research results on its therapeutic potential.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
20 citations
,
July 2011 in “PLoS ONE” This study found that HPV-150 and HPV-151 are rare genotypes with a preference for skin tissue, detected in some cases of skin lesions with generally low viral loads.
20 citations
,
May 2007 in “Asian-Australasian Journal of Animal Sciences” This study found that polymorphisms in the KAP8.2 gene in Chinese Inner Mongolia cashmere goats are associated with variations in cashmere fibre diameter, suggesting its potential as a molecular marker for this trait.
19 citations
,
June 2020 in “Animals” This study found that maternal sub-maintenance nutrition reduced the density and branching ratio of secondary wool follicles in Merino sheep fetuses and identified genes potentially involved in these processes.
17 citations
,
September 2020 in “Journal of Endocrinological Investigation” This study found that the gut microbiota composition in patients with post-finasteride syndrome differs significantly from healthy controls, with reduced diversity and specific microbial changes, suggesting a potential diagnostic marker and therapeutic target.
17 citations
,
October 2017 in “Scientific reports” This study found that Super Merino sheep have a higher wool follicle density, finer fleece, and distinct gene expression compared to Small Tail Han sheep, which may inform future breeding and genetic interventions.
16 citations
,
April 2007 in “Journal of Medical Primatology” This study reports that a 14-year-old female rhesus monkey with alopecia universalis was found to have a T-cell-mediated autoimmune disease similar to human alopecia areata universalis.
14 citations
,
April 2022 in “Functional & Integrative Genomics” This study identified specific miRNAs and mRNAs involved in the development of secondary hair follicles in cashmere goats, particularly noting a targeted relationship between chi-miR-30e-5p and DLL4.
14 citations
,
January 2020 in “International Journal of Biological Sciences” This study found that ranitidine and finasteride may have cardiovascular and renal protective effects in mice by inhibiting TMAO synthesis and improving gut microbiota composition.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
13 citations
,
July 2024 in “Heart Failure Reviews” This review compiles data on how the apelinergic system may protect against heart damage caused by doxorubicin cancer treatment, suggesting its potential to mitigate cardiotoxicity, though further research in chronic models is needed to confirm these effects and mechanisms.
13 citations
,
July 2022 in “Frontiers in cell and developmental biology” This review discusses the potential of cell-derived nanovesicles as innovative treatment strategies for hair growth and provides no new clinical results; the authors emphasize the need for further understanding of their mechanisms.
11 citations
,
July 2021 in “Physiologia Plantarum” In this study, the gene SlPHL1 was identified as a transcription factor in tomatoes that enhances phosphate starvation responses by upregulating specific genes.
11 citations
,
August 2019 in “The Journal of Sexual Medicine” This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.
11 citations
,
March 2019 in “EMBO molecular medicine” This paper reviews the role of endoplasmic reticulum stress and the unfolded protein response in Hutchinson-Gilford progeria syndrome-related atherosclerosis, especially in vascular smooth muscle cells, but reports no clinical findings; intervention in these pathways is suggested as a potential therapeutic strategy.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” This study reports a mutation in the U2HR gene causing Marie Unna hereditary hypotrichosis in a Turkish family and notes eyebrow loss as a diagnostic clue.
10 citations
,
November 2022 in “Protein & Cell” In this study, topical quercetin was found to stimulate hair follicle growth and promote microvascular regrowth in mice, suggesting its potential for hair regrowth strategies.
10 citations
,
March 2022 in “Communications biology” In this study, researchers found that non-invasive analysis of skin surface lipid RNAs revealed alterations in gene expression patterns associated with atopic dermatitis, suggesting its potential for understanding skin disease pathophysiology.
10 citations
,
July 2021 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” This study found that the expression of LRIG1 in Merkel cell carcinoma tumors was associated with improved overall and cancer-specific survival.
10 citations
,
May 2020 in “Journal of proteome research” This study found that hair proteome profiling and genetically variant peptide identification in hairs remained effective after an explosive blast, indicating potential for forensic human identification despite damage.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
8 citations
,
February 2015 in “Cellular immunology” This study found that deleting Snai2 and Snai3 genes in mice disrupts immune cell development, resulting in severe autoimmunity and early death due to the loss of immune tolerance.
8 citations
,
January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study reports a novel TRbeta gene mutation associated with resistance to thyroid hormone syndrome, which may contribute to various forms of alopecia in the affected family members.
7 citations
,
March 2019 in “Frontiers in Cellular and Infection Microbiology” Understanding how our bodies interact with mosquito-borne viruses is crucial because there are few treatments and vaccines.
7 citations
,
January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
6 citations
,
November 2021 in “Frontiers in immunology” This study suggests that STAT3 signaling in keratinocytes is crucial for maintaining skin homeostasis by regulating hair follicle-specific keratin genes, potentially impacting dermatitis development through microbe-triggered inflammatory responses.
6 citations
,
May 2020 in “Scientific reports” In this study, microarray and proteomic analyses indicated that genes involved in immune response, receptor binding, and growth factor activity might influence wool fibre diameter in sheep.
6 citations
,
January 2020 in “Czech Journal of Animal Science” This study found that specific SNPs in the sheep FAT1 gene are significantly associated with wool quality traits, suggesting potential markers for improving wool crimp, fibre length, and fibre diameter in breeding.