Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia.

No abstract is available for this paper.

• Publication year

  2012

• Venue

  American Journal of Human Genetics

• Publication date

  2012-11-02

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ajhg.2012.08.029PMID 23063621PMCID PMC3487122
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.

  2012cited by this paper
• Hox gene evolution: multiple mechanisms contributing to evolutionary novelties

  2012cited by this paper
• HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.

  2012cited by this paper
• The nude mutant gene Foxn1 is a HOXC13 regulatory target during hair follicle and nail differentiation.

  2011cited by this paper
• Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation.

  2010cited by this paper
• Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia.

  2010cited by this paper
• Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

  2009cited by this paper
• Towards a unified classification of the ectodermal dysplasias: Opportunities outweigh challenges

  2009cited by this paper
• Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.

  2009cited by this paper
• Ectodermal dysplasias: Clinical and molecular review

  2009cited by this paper
• Pure hair–nail ectodermal dysplasia maps to chromosome 12p11.1–q21.1 in a consanguineous Pakistani family

  2007cited by this paper
• Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome.

  2007cited by this paper
• Evidence That the Satin Hair Mutant Gene Foxq1 Is among Multiple and Functionally Diverse Regulatory Targets for Hoxc13 during Hair Follicle Differentiation*

  2006cited by this paper
• Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12–q21.2

  2006cited by this paper
• Epididymal cysteine-rich secretory protein 1 encoding gene is expressed in murine hair follicles and downregulated in mice overexpressing Hoxc13.

  2005cited by this paper
• Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development

  2005cited by this paper
• A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

  2005cited by this paper
• Expression of hair keratins in the adult nail unit: an immunohistochemical analysis of the onychogenesis in the proximal nail fold, matrix and nail bed

  2004cited by this paper
• Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13*

  2004cited by this paper
• Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia

  2004cited by this paper
• Hox in hair growth and development

  2003cited by this paper
• Hair cycle regulation of Hedgehog signal reception.

  2003cited by this paper
• HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression*

  2002cited by this paper
• Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia.

  2001cited by this paper
• The Catalog of Human Hair Keratins

  2001cited by this paper
• Mouse Gli1 mutants are viable but have defects in SHH signaling in combination with a Gli2 mutation.

  2000cited by this paper
• Induction of basal cell carcinomas and trichoepitheliomas in mice overexpressing GLI-1.

  2000cited by this paper
• Hair defects in Hoxc13 mutant mice.

  1999cited by this paper
• Exposing the human nude phenotype

  1999cited by this paper
• Hoxc13 mutant mice lack external hair.

  1998cited by this paper
• Mutation of HOXA13 in hand-foot-genital syndrome

  1997cited by this paper
• Family with "pure" hair-nail ectodermal dysplasia.

  1997cited by this paper
• A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome.

  1996cited by this paper
• Altered Growth and Branching Patterns in Synpolydactyly Caused by Mutations in HOXD13

  1996cited by this paper
• Hair‐nail dysplasia ‐ a new pure autosomal dominant ectodermal dysplasia

  1992cited by this paper
• Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia.

  1991cited by this paper

• Pure Hair-Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum.

  2026cites this paper
• Correlation Analysis of CXCL10, FOS, HOXC13, and WNT4 Gene Polymorphisms with Key Economic Traits—Initial Population Screening for Jiangnan Cashmere Goats

  2025cites this paper
• High-throughput DNA sequence analysis elucidates novel insight into the genetic basis of adaptation in local sheep

  2024cites this paper
• Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability

  2024influential citation
• Differential requirement of the transcription factor HOXC13 for the stable maintenance of human papillomavirus genome among high-risk genotypes.

  2024cites this paper
• Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

  2024influential citation
• Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits

  2024cites this paper
• Commonly Associated Disorders with Complete Scalp Alopecia in Early Childhood: A Review

  2023cites this paper
• miR-129-5p Participates in Hair Follicle Growth by Targeting HOXC13 in Rabbit

  2022cites this paper
• Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

  2022cites this paper
• Hair follicle stem cells feel the pressure.

  2022cites this paper
• Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update

  2022cites this paper
• Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13

  2021cites this paper
• Complementary evolution of coding and noncoding sequence underlies mammalian hairlessness

  2021cites this paper
• Update of recent findings in genetic hair disorders

  2021cites this paper
• Hair shaft miniaturization causes stem cell depletion through mechanosensory signals mediated by a Piezo1-calcium-TNF-α axis.

  2021cites this paper
• Skin, Hair, and Nails

  2021cites this paper
• Genotype-phenotype correlation in clubfoot (talipes equinovarus)

  2021cites this paper
• SPECIFIC ECTODERMAL ENHANCERS CONTROL THE EXPRESSION OF Hoxc GENES IN DEVELOPING MAMMALIAN INTEGUMENTS

  2020cites this paper
• Mammalian-specific ectodermal enhancers control the expression of Hoxc genes in developing nails and hair follicles

  2020influential citation
• Review of Keratin Disorders

  2019cites this paper
• Compound heterozygosity for novel KRT85 variants associated with pure hair and nail ectodermal dysplasia

  2019cites this paper
• Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease

  2019cites this paper
• Ectodermal Dysplasias

  2019cites this paper
• MEETING REPORT: THE 4TH ANNUAL MEETING OF THE CHINESE SOCIETY FOR INVESTIGATIVE DERMATOLOGY: Reflections on the Rise of Cutaneous Biology Research in China.

  2019cites this paper
• The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)

  2018cites this paper
• An insertion mutation in HOXC13 underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction

  2018cites this paper
• Transcription and microRNA Profiling of Cultured Human Tympanic Membrane Epidermal Keratinocytes

  2018cites this paper
• The disrupted balance between hair follicles and sebaceous glands in Hoxc13‐ablated rabbits

  2018cites this paper
• Perspectives of Alopecia behind the Regulation of Foxn1 Gene Exposes the Human Nude Phenotype

  2018cites this paper
• Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.

  2017cites this paper
• Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair

  2017cites this paper
• A Novel Homozygous Missense Mutation in HOXC13 Leads to Autosomal Recessive Pure Hair and Nail Ectodermal Dysplasia

  2017influential citation
• A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family

  2017cites this paper
• Autosomal recessive transmission of a rare HOXC13 variant causes pure hair and nail ectodermal dysplasia

  2017cites this paper
• Genetic Defects of Nails and Nail Growth

  2016cites this paper
• Identification of LCK mutation in a family with atypical epidermodysplasia verruciformis with T‐cell defects and virus‐induced squamous cell carcinoma

  2016cites this paper
• Sex differences in disease genetics

  2016cites this paper
• Journey toward unraveling the molecular basis of hereditary hair disorders.

  2016cites this paper
• Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia–9

  2016cites this paper
• Deletions of 5′ HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus

  2016cites this paper
• HOX genes: Major actors in resistance to selective endocrine response modifiers.

  2016cites this paper
• Expression of Human Skin-Specific Genes Defined by Transcriptomics and Antibody-Based Profiling

  2015cites this paper
• Hoxc13 is a crucial regulator of murine hair cycle

  2015cites this paper
• Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.

  2015cites this paper
• Molecular genetics of alopecias.

  2015cites this paper
• A Novel Locus for Ectodermal Dysplasia of Hair, Nail and Skin Pigmentation Anomalies Maps to Chromosome 18p11.32-p11.31

  2015cites this paper
• YAP Regulates the Expression of Hoxa1 and Hoxc13 in Mouse and Human Oral and Skin Epithelial Tissues

  2015cites this paper
• Exome sequencing greatly expedites the progressive research of Mendelian diseases

  2014cites this paper
• To grow or not to grow: hair morphogenesis and human genetic hair disorders.

  2014cites this paper
• Etiology and pathogenesis of ectodermal dysplasias

  2014cites this paper
• Genetic Mapping of Genes Causing Human Hereditary Alopecias and Ectodermal Dysplasias

  2014cites this paper
• A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.

  2014cites this paper
• Absence of skeletal anomalies in siblings with a maternally inherited 12q13.13‐q13.2 microdeletion partially involving the HOXC gene cluster

  2014cites this paper
• Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies

  2014cites this paper
• Molecular Genetics and Metabolism

  2014cites this paper
• Human HOX gene disorders.

  2014cites this paper
• Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

  2014cites this paper
• Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

  2014influential citation
• Recurrent splice‐site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome‐like features in a Chinese patient

  2014cites this paper
• [Genetic hair diseases. An update].

  2013cites this paper
• A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

  2013influential citation
• Adaptive evolution of Hoxc13 genes in the origin and diversification of the vertebrate integument.

  2013cites this paper
• Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families

  2013cites this paper
• Hereditary and Congenital Nail Disorders

  2008cites this paper