7 citations
,
December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
7 citations
,
December 2007 in “Poultry Science” In this study, beta-catenin expression was found to be significant in embryonic goose skin during early feather bud development, with patterns similar to Shh expression, suggesting its importance in normal development.
6 citations
,
February 2024 in “Pharmaceutics” This study found that echogenic liposomes improved the delivery and penetration of CRISPR/Cas9 genetic materials into cardiomyocytes, both in vitro and in vivo, especially when combined with ultrasound, highlighting a promising strategy for cardiovascular gene therapy.
6 citations
,
October 2023 in “Animal Biotechnology” This study found that a 22-bp InDel polymorphism in the FGF7 gene was significantly associated with growth traits in goats, with genotypes ID and/or II linked to better growth compared to genotype DD, indicating its potential as a molecular marker in breeding programs.
6 citations
,
April 2023 in “Current Issues in Molecular Biology” This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.
6 citations
,
March 2020 in “Anais Brasileiros de Dermatologia” This study found that the genetic variants rs231775 and rs3087243 of the CTLA4 gene are not associated with alopecia areata in the Mexican population analyzed.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
6 citations
,
June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
6 citations
,
January 2004 in “DNA Research” This study identified a nonsense mutation in the Sgkl gene as the cause of defective hair growth in a mutant mouse strain, implicating the SGKL signaling pathway in hair development.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.
5 citations
,
January 2016 in “Dermatology” This study found no significant difference in CAG repeat numbers of the androgen receptor gene between Han Chinese women with female pattern hair loss and healthy controls, suggesting it may not be a genetic marker for FPHL in this population.
5 citations
,
February 1981 in “Experientia” In this study, a new hairless gene in the Donryu rat strain was identified, showing skin similarities to human skin tumors with multiple follicular cysts.
4 citations
,
August 2023 in “Journal of Investigative Dermatology” Certain genes influence the direction of hair whorls on the scalp.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
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.
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
3 citations
,
July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
3 citations
,
June 2021 in “Frontiers in genetics” This study found that STAT3 directly inhibited the activity of the sheep FST gene promoter, consequently reducing cell proliferation and promoting a better understanding of hair follicle development mechanisms.
3 citations
,
February 2019 in “Animal biotechnology” In this study, the PLP2 gene was found to promote secondary hair follicle development in Liaoning cashmere goats, with its expression negatively regulated by melatonin and potentially affecting follicle development via the BMP pathway.
3 citations
,
August 2018 in “Deleted Journal” This study found that Guasha therapy did not significantly alter nerve fiber morphology or the expression of CGRP and SP in rat skin, with parameters generally returning to normal within five days.
3 citations
,
January 2018 in “Postępy Dermatologii i Alergologii” This study suggests that SRD5A2 polymorphisms may increase the risk of acne in individuals with normal serum testosterone levels, particularly in the Chinese population.
3 citations
,
March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
3 citations
,
March 2010 in “Dermatologica Sinica” This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.
2 citations
,
August 2024 in “Animal Bioscience” This study suggests that m6A-circHECA may influence the physiology of cashmere goats' SHFs both through miRNA pathways and interactions with target proteins, with promoter methylation potentially inhibiting its gene expression.
2 citations
,
September 2022 in “World Rabbit Science” This study found that the WIF1 gene may play a crucial role in hair follicle growth and development in Angora rabbits by regulating specific genes and proteins.
2 citations
,
October 2021 in “Bioinformation” This study found that the FTO gene variants rs17817449 and rs1421085 were significantly associated with PCOS susceptibility, and rs8050136 was linked with hair loss and high BMI in women with PCOS in western Saudi Arabia.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
2 citations
,
October 2012 in “Experimental Dermatology” This study found that, despite the unchanged total level of 18-MEA, deletion of the Sox21 gene disrupts its attachment to the hair cuticle, increases cholesterol sulphate levels, and differentially affects ceramide composition.