50 citations
,
February 2013 in “Annals of Clinical Biochemistry” This review discusses the production, role, and measurement of dihydrotestosterone (DHT) in various disorders of sexual development but does not report new clinical results.
15 citations
,
March 2015 in “PloS one” This study demonstrated that an AR-EGFP transgene can restore AR function and fertility in Sertoli cell-specific AR knockout mice, highlighting its potential use in understanding androgen receptor functions.
7 citations
,
February 2019 in “Veterinary medicine and science” This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.
1 citations
,
May 2023 in “European Journal of Human Genetics” This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
105 citations
,
October 2017 in “Stem cells” This review discusses Wnt signaling pathways in skin development and stem cell regulation, highlighting potential interactions with other pathways but reports no new findings.
81 citations
,
February 2016 in “Veterinary pathology” This review discusses the commonly observed pathological findings in progeroid mouse models and highlights the importance of understanding mouse strain backgrounds and progeria-related phenotypes for accurate pathology data interpretation.
15 citations
,
December 2020 in “The Journal of General Physiology” This study found that acid regulation of the TRPV3 channel can inhibit its function from outside the cell while facilitating it from inside, providing insights into skin barrier and disorder mechanisms related to tissue acidosis.
98 citations
,
June 2008 in “Human mutation” This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.
November 2011 in “Pediatric dermatology” This case report and literature review discusses Marie-Unna hereditary hypotrichosis and presents no new clinical results.
4 citations
,
December 2013 in “British Journal of Dermatology” This study reports an association between the ESR2 gene variant rs10137185 and female-pattern hair loss in German patients.
35 citations
,
February 2012 in “The New England Journal of Medicine” Early diagnosis and treatment of TPP can prevent complications.
8 citations
,
April 2015 in “British Journal of Dermatology” This report describes two cases of white piedra caused by Trichosporon inkin in a northern climate, detailing clinical findings and diagnosis without presenting new experimental results.
2 citations
,
September 2016 in “Journal of Dermatological Science” This study reported that squarticles, nanoparticle carriers made from sebum-derived lipids, significantly enhanced minoxidil delivery to hair follicles in vitro, increasing follicular uptake sevenfold and minimizing systemic absorption compared to a free control solution, while showing good skin tolerability.
September 2016 in “Journal of Dermatological Science” This study found that extracellular factors from a specific developmental stage can promote hair follicle neogenesis in adult skin by facilitating interactions between fibroblasts and keratinocytes.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that while blocking either glycolysis or glutaminolysis in cancer cells did not prevent tumor growth due to metabolic flexibility, simultaneous inhibition of both pathways hindered carcinoma development, indicating multiple interventions may be necessary for effective metabolic manipulation in cancer treatment.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in a mouse model of Leigh syndrome, rapamycin alters brain proteome and may extend survival by targeting protein kinase C.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that mature adipocytes can dedifferentiate into fibroblast-like cells, driven by PDGF and TGFβ signaling, which may play a role in wound repair and fibrosis.
3 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study revealed key cellular dynamics and interactions during early embryonic mouse skin development, highlighting complex transitions from precursor states to diverse multilayered structures.
46 citations
,
May 2011 in “Movement Disorders” This article contains additional supporting information available online but presents no new research findings.
39 citations
,
May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
17 citations
,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
5 citations
,
May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
5 citations
,
May 2011 in “Movement Disorders” Finasteride may help reduce tic severity in male Tourette syndrome patients.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
2 citations
,
December 2024 In this study, the researchers observed that the evolution of Curtobacterium flaccumfaciens pv. flaccumfaciens, which causes tan spot in Australian mungbeans, is driven by clonal expansion from existing genetic variations, emphasizing the need for informed breeding strategies to manage resistance against this pathogen.
1 citations
,
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study created a detailed spatial atlas of healthy human skin and basal cell carcinoma, revealing a potential hair follicle origin for basal cell carcinoma and expansion of certain mesenchymal cell populations.
1 citations
,
March 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study examined wool traits in Angora rabbits using low-coverage whole genome sequencing, identifying six QTLs and a gene, FGF10, linked to fiber growth and diameter, suggesting a cost-effective approach for complex trait analysis in genomic breeding.
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that intracrine androgen signaling, mediated by steroid 5α-reductase, is essential for optimal decidualization and vascular development in the endometrium during pregnancy, indicating potential targets for improving age-related fertility issues.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.