124 citations
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September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.
20 citations
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May 2013 in “International Journal of Molecular Medicine” This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.
32 citations
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May 2018 in “The Plant Cell” This article discusses the crucial role of root hairs in water and nutrient uptake from soil and reports no new findings.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
September 2023 in “World Rabbit Science” In this study using Angora rabbits, researchers found that the FRZB gene inhibits hair follicle development by modulating the Wnt/β-catenin signaling pathway, affecting the expression of various genes related to this pathway and altering cell proliferation and apoptosis.
157 citations
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October 2003 in “Development” This study found that different stabilizing mutations in Aux/IAA proteins affect root hair development in Arabidopsis by disrupting the auxin response and suggest a model where the relative abundance of these proteins determines root hair initiation.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.
7 citations
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January 2015 in “Case reports in genetics” This case report illustrates how SNP array testing helped identify a DCAF17 mutation linked to Woodhouse-Sakati syndrome in consanguineous Qatari siblings with shared features including alopecia and hypogonadotropic hypogonadism.
93 citations
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July 2006 in “Journal of Investigative Dermatology” This study describes the expression patterns of type I inner root sheath keratin proteins K25–K28 in human hair follicles, highlighting their distinct distribution within different layers.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
May 2022 in “Frontiers in Cell and Developmental Biology” This study identified that in pig embryos, the miR-29a-5p/EDAR/lncRNA627.1 ceRNA complex plays a critical role in inhibiting hair placode precursor cells proliferation and regulating hair placode formation through the suppression of EDAR expression, which may provide insights into similar mechanisms affecting human hair conditions.
75 citations
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July 2016 in “New phytologist” This study found that RSL4 in Arabidopsis thaliana regulates genes necessary for root hair elongation by controlling proteins involved in cell signaling, cell wall modification, and secretion.
1 citations
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November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
98 citations
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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.
27 citations
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November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
November 2020 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” This study identified several genetic variants associated with cattle hair coat length, which may help breed more heat-tolerant animals by facilitating efficient heat loss.
This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.
25 citations
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March 2004 in “Regulatory Toxicology and Pharmacology” Using testosterone-stimulated weanling rats can effectively replace castrated rats for anti-androgen testing, reducing animal stress.
2 citations
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June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
34 citations
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January 2004 in “Genomics” In this study, researchers identified a cluster of hair-specific keratin-associated protein genes within the 21q22.3 region, revealing a novel transcription mechanism involving TSPEAR/C21orf29 that may bypass typical transcriptional termination sites.
January 2008 in “HAL (Le Centre pour la Communication Scientifique Directe)” This study identified complex regulatory elements and interactions involving the Hr gene and HR protein that are crucial for hair follicle formation and cycling in mammals.
July 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Arabidopsis thaliana mutants with altered AtRBOHC/RHD2 enzyme function showed abnormal protein regulation linked to increased drought sensitivity due to disrupted plasma membrane protein balance and cytoskeleton changes, as revealed through proteomic analysis and advanced microscopy.
January 2011 in “The Chinese Journal of Dermatovenereology” This study found that shorter GGN repeat lengths (≤23) in the androgen receptor gene are associated with androgenetic alopecia among Chinese males, whereas two specific SNPs studied were not present in this population.
December 2021 in “OPAL (Open@LaTrobe) (La Trobe University)” This study found that BBS7 is crucial for maintaining Sonic hedgehog signaling activity and periodontal ligament homeostasis, with changes in gene expression observed in occlusal hypofunctional PDL.
36 citations
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November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
4 citations
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July 2012 in “Linguistic Annotation Workshop” This study found that greater root surface area due to root hairs contributed to better growth and zinc uptake of wild-type barley compared to its root-hairless mutant in zinc-deficient soil.