1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports 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.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
37 citations
,
April 2017 in “npj Regenerative Medicine” This study found that platelet-derived growth factor signaling is crucial for maintaining the hair follicle dermal stem cell pool and supporting their regenerative capacity.
17 citations
,
July 2022 in “BMC Genomics” This study found that overexpression of the FA2H gene in cashmere goats' hair follicle cells may enhance hair proliferation and regulate genes affecting cashmere fineness.
17 citations
,
June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
14 citations
,
February 2021 in “Experimental Dermatology” This study found that activating CB1 receptor signaling in human hair follicles increased stem cell proliferation while reducing differentiated cell survival, suggesting CB1's role as a survival stimulus for epithelial stem cells.
9 citations
,
May 2019 in “Medicine” This meta-analysis found that the rs2476601 SNP of the PTPN22 gene is significantly associated with reduced susceptibility to alopecia areata, with carriers of the C-allele and CC-genotype having a lower risk.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
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
,
October 2020 in “Endocrine journal” This case report identifies two specific mutations in the WRN gene in a 40-year-old female with Werner syndrome, highlighting the need for awareness of its early manifestations and treatment options.
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
,
March 2009 in “Journal of the European Academy of Dermatology and Venereology” This study found no increased frequency of the TNF2 allele in Mexican patients with adverse cutaneous drug reactions mediated by delayed hypersensitivity, suggesting its lower relevance compared to findings in Caucasian populations.
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
,
November 2021 in “Saudi medical journal” This report describes three Saudi sisters with Woodhouse-Sakati syndrome, who exhibited typical features of the condition along with unusual gynecological anomalies.
5 citations
,
February 2019 in “PloS one” This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.
4 citations
,
July 2022 in “Scientific reports” This study observed significant differences in hair and cashmere properties among three goat breeds in Southwest China, noting better quality cashmere in Inner Mongolia cashmere goats and their crossbreed compared to Dazu black goats.
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.
3 citations
,
September 2024 in “Frontiers in Bioscience-Scholar” This study reported that Pantaneiro sheep from the Pantanal region of Brazil exhibit greater genetic variability and adaptability compared to the commercial Texel breed, highlighting their potential for further research and importance in Brazilian sheep farming.
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
,
March 2023 in “International journal of molecular sciences” This review discusses the patterns and regulatory mechanisms of keratin expression in various biological conditions and reports no new experimental results.
2 citations
,
February 2024 in “Medicine” In this study, researchers found that the rs3118470 mutation in the IL2RA gene significantly increases the risk of developing alopecia areata, and they emphasize the need for future research with larger, more diverse populations to validate these results.
2 citations
,
January 2021 in “Case reports in endocrinology” In this case report, a girl with autoimmune polyglandular syndrome type 1 experienced stabilized disease and reversal of alopecia universalis after treatment with glucocorticoids and methotrexate.
1 citations
,
October 2024 in “Canine Medicine and Genetics” This study suggests a potential genetic component in CFA among Ridgeback dogs, but MLPH genotyping did not identify the MLPH gene as a contributing factor.
1 citations
,
September 2023 in “Genes” This study found no significant difference in CUX1 core promoter methylation levels between different lambskin patterns in Hu sheep, suggesting other mechanisms influence CUX1 expression related to hair follicle development.
1 citations
,
March 2023 in “PloS one” In this study, researchers identified key mRNA and microRNA regulatory mechanisms that influence cashmere growth in cashmere goats under different photoperiods, potentially offering new methods to enhance cashmere production.
1 citations
,
December 2022 in “BMC Genomics” This study found that the Msx2 gene may regulate goose feather follicle development by influencing cell viability and gene expression, with potential implications for improving down production.
1 citations
,
July 2022 in “Вопросы современной педиатрии” This review discusses progeria, focusing on its pathogenesis, major symptoms, and management strategies, and includes a clinical case of a girl with the disease confirmed by genetic testing; it reports no new clinical results.
1 citations
,
September 2019 in “Steroids” In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
In this study, researchers performed a genome-wide characterization of the Wnt gene family in domestic donkeys, identifying 19 genes and highlighting their evolutionary conservation among mammals, along with tissue-specific expression patterns potentially linked to reproductive regulation and tissue homeostasis.