2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
This study explored the molecular communication between hair matrix cells and dermal papilla cells in cashmere goats, revealing key ligand-receptor pairs and signaling pathways that facilitate intercellular crosstalk and potentially influence hair growth mechanisms.
174 citations
,
July 2003 in “The Journal of Clinical Endocrinology & Metabolism” This study investigated genetic and phenotypic characteristics of androgen insensitivity syndrome in individuals with a 46,XY karyotype, documenting a range from complete to partial insensitivity.
22 citations
,
January 1985 in “Journal of Human Evolution/Journal of human evolution” This review examines the evolution of human skin pigmentation and its genetic basis, suggesting that variations might be due to a few interacting gene pairs, and reports no new research findings.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study investigated the roles of long non-coding RNAs in mouse hair follicle stem cells, using sequencing to identify potential biomarkers and targets for treatments in both mice and humans.
February 2024 in “New phytologist” This study reported that during wheat polyploidization, decreased DNA methylation and specific hypomethylated promoters were associated with altered gene transcription, contributing to root hair elongation and improved nitrate uptake, highlighting the role of epigenetic regulation in enhancing crop traits.
10 citations
,
December 2021 in “Frontiers in cell and developmental biology” This study used single-cell RNA sequencing to map the cellular composition of sheep hair follicles, revealing differentiation pathways and potential molecular mechanisms for wool curvature, which may inform sheep breeding.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
74 citations
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October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
33 citations
,
September 1990 in “Proceedings of the National Academy of Sciences” This study found that a 671-base pair promoter sequence from the ultra-high-sulfur keratin gene is sufficient to direct tissue-specific and development-specific expression of a reporter gene during hair growth in transgenic mice.
272 citations
,
September 2001 in “Journal of Biological Chemistry” This study cataloged human type II hair keratins, detailing their expression and differentiation roles in hair follicles and comparing them with type I keratins to explore keratin-pairing principles.
105 citations
,
February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.
44 citations
,
May 1997 in “Journal of Biological Chemistry” This study found that regulatory sequences crucial for inducing K6a expression in response to epidermal injury are located in specific upstream regions of the K6a gene in transgenic mice.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
11 citations
,
January 2020 in “BMC pediatrics” This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.
January 2007 in “Journal of Southwest University” This study identified that the ND1 gene sequence of the Asian black bear's Sichuan subspecies shares high similarity with those of other bear species, raccoons, and Ailurus fulgens.
2 citations
,
February 2014 in “Animal Biotechnology” This study reported that the PTGER2 gene is strongly expressed in cashmere goat skin and its expression tends to decrease from the anagen to telogen stages of the hair follicle cycle.
1 citations
,
April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
124 citations
,
September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
76 citations
,
September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
32 citations
,
January 2000 in “International Journal of Cancer” In this study, the researchers observed significant down-regulation of Transglutaminase-3 expression in esophageal cancer tissues compared to normal tissues, suggesting its alteration is a common event in esophageal cancer development.
January 2007 in “Journal of Inner Mongolia University” This study achieved successful cloning of the ovine keratin associated protein 6-1 gene, which may facilitate future research on transgenic animals and hair follicle gene regulation.
November 2023 in “Scientific reports” This study presents the first report on cloning and characterizing the full-length cDNA of SRD5A1 in Indian catfish (Clarias magur), revealing expression differences across reproductive phases and increased expression post-Ovatide administration in ovaries and testis.
31 citations
,
October 2019 in “Genes & Diseases” This study identified significant gene expression differences in human basal cell carcinoma, including up-regulation of zinc finger encoding genes, which are not entirely reflected in current mouse models.
191 citations
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December 2003 in “Journal of Investigative Dermatology” Male pattern baldness is largely genetic, linked to the androgen receptor gene, and may relate to certain health issues.
July 2023 in “Frontiers in veterinary science” In this study, researchers analyzed skin samples from Dorper sheep to identify 395 differentially expressed long non-coding RNAs (lncRNAs) linked to hair follicle growth phases, suggesting these lncRNAs may play a role in the regulation of hair shedding through pathways like estrogen and PI3K-Akt signaling.
2 citations
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September 2022 in “Frontiers in veterinary science” In this study, researchers used high-throughput sequencing to explore lncRNA interactions in cashmere goat hair follicles during embryonic development, finding lncRNAs potentially regulate genes in the Wnt and PI3K-Akt pathways related to hair follicle growth.
June 2020 in “Journal of Investigative Dermatology” This study found that spatial transcriptomics can reveal hidden inflammation patterns in atopic dermatitis by correlating epidermal and dermal gene expression levels, improving understanding of skin pathology.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
October 2022 in “Frontiers in Genetics” This study found that miRNAs increase and target mRNAs and lncRNAs decrease from the anagen to telogen phase in mouse hair follicles, and these ceRNA networks may play a role in hair follicle cycling.