47 citations
,
June 2017 in “The FEBS journal” This study found that CRISPR/Cas9-induced loss-of-function mutations in the FGF5 gene significantly increased wool length and yield in genetically modified Chinese Merino sheep compared to wild-type controls.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
9 citations
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May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.
6 citations
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November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the gene Dkk4 influences color pattern formation in domestic cat fetuses, and its mutation is linked to the Ticked pattern type.
1 citations
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December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the efflux of calcium in root hairs of Arabidopsis thaliana, particularly through the ER-localized ACA2 and ACA7, is crucial for modulating cytoplasmic calcium signals and enabling proper root hair growth, with disruptions leading to impaired elongation.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that distinct spiny hair morphologies in rodents arose independently multiple times but did not link the Ecdysoplasin A receptor gene mutation that affects human hair to these variations.
32 citations
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January 2017 in “Orphanet journal of rare diseases” This article reviews the genetic basis, diagnostic approaches, and treatment options for nude severe combined immunodeficiency, but does not present any new research findings.
July 2021 in “Scholars Journal of Medical Case Reports” In this report, a 16-year-old Saudi girl with Woodhouse-Sakati Syndrome exhibited unique findings, including hepatic hemangioma and low growth hormone, suggesting the importance of considering WSS in similar clinical presentations.
This review summarizes recent genetic research on hidradenitis suppurativa, highlighting potential therapeutic targets and genetic mutations, but reports no new clinical findings.
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.
31 citations
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January 2014 in “Journal of endocrinological investigation” This study reviewed Woodhouse-Sakati syndrome and found it consistently associated with hypogonadism, decreased IGF1, and frontotemporal alopecia, with additional symptoms like intellectual disabilities and diabetes in some patients.
In this study, a validated chromatographic method demonstrated the ability to simultaneously analyze gemcitabine and olaparib in pancreatic cancer tissues, supporting the advancement of pharmaceutical formulations combining these drugs, particularly for patients with BRCA mutations.
86 citations
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October 2005 in “Experimental Dermatology” This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.
81 citations
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June 2012 in “European journal of human genetics” This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no new clinical results.
10 citations
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March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
380 citations
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March 2000 in “Proceedings of the National Academy of Sciences” This study demonstrates that mice with ectopic expression of the human GLI-1 gene in their skin developed tumors resembling human basal cell carcinoma, suggesting that GLI-1 is central to tumor development without additional p53 or Ha ras mutations.
333 citations
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March 2000 in “Proceedings of the National Academy of Sciences” In this study, researchers established that increased expression of the human GLI-1 gene in mouse skin leads to the development of tumors that closely resemble human basal cell carcinomas, without requiring additional mutations in the p53 or Ha ras genes.
100 citations
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May 2011 in “Journal of Pediatric and Adolescent Gynecology” This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.
10 citations
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June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” This article reports the first documented cases of Marie-Unna hereditary hypotrichosis in Egypt, highlighting the variability of genetic mutations in this rare form of congenital hair loss.
89 citations
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September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
69 citations
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January 2013 in “Frontiers in Immunology” This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.
30 citations
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October 2020 in “Nature Communications” This study provides the first crystal structure of the human SRD5A2 enzyme, revealing key insights into its function and inhibition which may aid future drug development.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
January 2014 in “S. Karger AG eBooks” Type 2 diabetes in youth is increasing, with high treatment failure rates and more severe than Type 1; certain drugs can lower lipid levels effectively with varying side effects, and apples may benefit heart health like statins but with fewer side effects.
November 2023 in “Global Medical Genetics” This case report describes a 1-month-old male infant with Netherton syndrome, characterized by severe hypernatremia, skin and scalp issues, highlighting the syndrome's complications, including growth retardation and infection risks in early life.
688 citations
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June 2007 in “Cell Stem Cell” This study found that deleting the ATR gene in adult mice led to rapid onset of age-related traits such as hair graying and osteoporosis through reduced regenerative capacity.