166 citations
,
November 2008 in “Expert Review of Endocrinology & Metabolism” This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.
148 citations
,
May 2012 in “The American Journal of Human Genetics” This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
136 citations
,
July 2014 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified mutations in the FGF5 gene as a cause of extreme eyelash growth in Pakistani families, highlighting a potential target for regulating eyelash growth.
127 citations
,
January 2008 in “PloS one” This study observed that the vitamin D receptor is crucial for hair follicle formation and altering tumor development in the Wnt signaling pathway, suggesting therapeutic potential for vitamin D analogues in related tumors.
117 citations
,
April 2008 in “Developmental biology” This study identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.
114 citations
,
February 2023 in “International Journal of Molecular Sciences” This review discusses the relationship between skin microbiome changes and conditions such as ageing and skin disease, emphasizing the need for further research, but reports no new findings.
101 citations
,
November 2019 in “The Plant Cell” This study found that the zinc finger protein AtZP1 inhibits root hair initiation and elongation in Arabidopsis by suppressing key transcription factors involved in root hair development.
91 citations
,
December 2000 in “The journal of cell biology/The Journal of cell biology” This study reports that expressed mouse type Ia and type IIa trichocyte keratins were successfully assembled into intermediate filaments in vitro, while also suggesting that disulfide bond cross linking enhances their stability.
83 citations
,
August 2020 in “Resources” This review highlights the potential of marine macroalgae as a largely untapped resource for developing new active ingredients in the cosmetic industry, emphasizing their role in supporting circular economy models by utilizing waste from other industrial sectors.
81 citations
,
March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
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.
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.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.
65 citations
,
September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
55 citations
,
December 2021 in “BMC Veterinary Research” This study identified several candidate genes related to wool production traits and adaptation to hot, arid environments in Iranian sheep, highlighting potential targets for future inbreeding programs.
52 citations
,
September 2022 in “Viruses” This review discusses the functions of SARS-CoV-2 non-structural proteins in facilitating immune evasion and highlights possible therapeutic strategies, reporting no new clinical results.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
47 citations
,
July 1998 in “Journal of Investigative Dermatology” A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
46 citations
,
May 2003 in “Mechanisms of Development” This study found that overexpression of the calcium sensing receptor in transgenic mice accelerates epidermal differentiation and hair growth, suggesting its role in enhancing calcium signaling and interaction with other pathways.
43 citations
,
May 1999 in “Journal of Biological Chemistry” This study found that full-length Agouti protein modulates melanocortin receptor signaling through a dual mechanism involving competitive antagonism and receptor down-regulation, whereas the carboxyl-terminal fragment acts solely as a competitive antagonist.
42 citations
,
July 2015 in “PLoS ONE” This study presents the first detailed 3D models of the complete K1/K10 keratin dimer and identifies structural features and interactions that may inform understanding of keratin filament assembly.
41 citations
,
February 2021 in “Translational research” This review discusses the role of noncoding RNAs (ncRNAs) in radiation response and highlights their potential as biomarkers for assessing radiation damage, but reports no new clinical results.
37 citations
,
May 2018 in “Frontiers in physiology” This study identified key long non-coding RNAs and mRNAs involved in primary wool follicle induction in carpet wool sheep, emphasizing their roles in hair follicle development and skin processes.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
35 citations
,
August 2009 in “Differentiation” This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.
34 citations
,
July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
33 citations
,
February 2024 in “International Journal of Molecular Sciences” This study highlights the crucial, multifaceted roles of fibroblasts in wound healing and various diseases, including their dysregulation in diabetic foot ulcers, underscoring the need for targeted therapies to address complications and morbidity from such chronic conditions.
33 citations
,
October 2020 in “Frontiers in Cell and Developmental Biology” In this study, researchers found that during zebrafish telencephalon regeneration, the lesioned hemisphere showed distinct gene expression changes and activated Wnt/β-catenin signaling early after injury, suggesting this pathway's significant role in recovery.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.