research The Shaven (Sha) Mutation, Chromosome 15
This study found that mutations affecting hair keratin expression on Chromosome 15 in mice may cause altered hair and skin features similar to other known mouse mutations.
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30 / 1000+ resultsresearch The Naked (N) Mutation, Chromosome 15
This article describes the "naked" mouse mutation, which results in hair loss and is linked to chromosome 15, noting similarities and differences with human ectodermal dysplasia, but provides no new experimental findings.
research Susceptibility variants on chromosome 7p21.1 suggest HDAC9 as a new candidate gene for male-pattern baldness
This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
research Genomic Organization and Amplification of the Human Keratin 15 and Keratin 19 Genes
This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.
research Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs
This study identified two significant genomic regions potentially involved in hair development and growth in Casertana pigs, highlighting FOXN3 and ARHGEF10 as candidate genes associated with a hairless phenotype.
research Hague (Hag): A New Mouse Hair Mutation With an Unstable Semidominant Allele
This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.
research Pathophysiology of Alopecia Areata in the Pediatric Patient
This study found that alopecia areata is linked to genetic factors, specifically HLA haplotypes on chromosome 6, and involves immune privilege collapse at hair follicles which is mediated by the JAK-STAT pathway and pro-inflammatory cytokines like IFN-γ.
research Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia
Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
research Chromosomal Localization of Mouse Hair Keratin Genesa
This study suggests that hair keratin gene mutations in mice may be linked to specific loci on chromosomes 11 and 15, potentially influencing keratin expression or structure.
research An adolescent girl presenting with primary amenorrhea: A case report of complete androgen insensitivity syndrome
This case report describes the diagnosis and management of a 15-year-old girl with complete androgen insensitivity syndrome, highlighting the importance of thorough physical exams for early detection and treatment planning.
research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits
This study identified a new ovine KRTAP21-1 gene variant in sheep, with wool yield affected by the variant, suggesting its potential as a genetic marker for improving wool production.
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
This article reviews keratosis follicularis squamosa, a keratinizing disorder predominantly found in the Japanese population, but reports no new clinical results.
research ANDROGENIC ALOPECIA: PATHOGENETIC MECHANISMS AND THERAPEUTIC APPROACHES
This review discusses treatments for androgenic alopecia, noting that current options like finasteride and minoxidil are effective for only 10% of patients, thus highlighting the need for new therapies.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Characterisation of an Ovine Keratin Associated Protein (KAP) Gene, Which Would Produce a Protein Rich in Glycine and Tyrosine, but Lacking in Cysteine
In this study, the identification of a novel KAP gene in sheep, named KRTAP36-1, was associated with increased prickle factor in wool, suggesting its potential as a genetic marker for breeding purposes.
research Human Adipose-Derived Mesenchymal Stromal Cells Exhibit High HLA-DR Levels and Altered Cellular Characteristics under a Xeno-free and Serum-free Condition
This study suggests that StemMACS MSC Expansion Media is more suitable than PowerStem MSC1 media for expanding therapeutic adipose-derived mesenchymal stem cells, with less expression of negative markers and better chromosomal stability.
research Human Adipose-derived Mesenchymal Stromal Cells Exhibit High HLA-DR Levels and Altered Cellular Characteristics under a Xeno-free and Serum-free Condition
In this study of clinical-grade ADMSCs, researchers found that cells expanded in PowerStem MSC1 media exhibited increased negative marker expression, chromosomal abnormalities, and signs of senescence compared to those cultured in StemMACS MSC Expansion Media, suggesting that the latter is more suitable for therapeutic applications.
research Letter To Editor-Alopecia universalis in Down syndrome: Response totherapy
This abstract reviews published cases indicating a potential association between alopecia areata and Down syndrome, with no new clinical results.
research Male-pattern baldness susceptibility locus at 20p11
In their study, Tim Spector and colleagues identified a new genetic association at chromosome 20p11.22 with male-pattern baldness, confirmed by the increased risk when combined with a known androgen receptor gene variant.
research Congenital atrichia with papular lesions
In this report, a 1-year-old boy with congenital atrichia with papular lesions was found to have a complete absence of scalp and body hair and keratin-filled cysts due to a mutation in the hairless gene.
research Primary Amenorrhoea
This study outlines a multidisciplinary approach to investigate primary amenorrhea, emphasizing the necessity to consider medical history, physical examination, and potential hormonal or anatomical causes, and recommends early referral in cases of chromosomal abnormalities or persistent amenorrhea following the development of secondary sexual characteristics.
research Ponatinib-induced pityriasis rubra pilaris-like adnexal dysmaturation: A case report
This study reported a rare case of pityriasis rubra pilaris-like skin reaction in an 18-year-old woman after starting ponatinib treatment for relapsed Philadelphia chromosome-positive acute lymphoblastic leukemia, which resolved after treatment adjustment and did not recur over 15 months.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report
This report describes a rare case of congenital generalized hypertrichosis terminalis in a six-year-old boy with gingival hyperplasia, a coarse face, congenital hydronephrosis, and a heterozygous deletion on chromosome 17q12.
research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia
This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
research Treatment of alopecia areata: “What is new on the horizon?”
This review discusses potential new drug treatment strategies for alopecia areata based on genome-wide association study findings, but it reports no new clinical results.
research The first broad replication study of SNPs and a pilot genome‐wide association study for androgenetic alopecia in Asian populations
This study in a Korean population identified two novel genetic variants that may increase the risk of androgenetic alopecia, contributing to understanding its genetic basis in non-European populations.
research An interview Drs. Felix Brockschmidt and Markus Nöthen about the genetics of androgenetic alopecia
This article provides an interview with Felix Brockschmidt about his award-winning work on the genetics of male pattern androgenetic alopecia, focusing on the androgen receptor and findings on chromosome 20p11, and reports no new experimental results.