Current Genetics in Hair Diseases

February 2013 in “ InTech eBooks ”

Yutaka Shimomura

Studysummary Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer

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Research cited in this study

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research A Missense Mutation Within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis

78 citations , May 2012 in “Journal of Investigative Dermatology”

A specific gene mutation causes woolly hair and hair loss.

research Trps1 Activates a Network of Secreted Wnt Inhibitors and Transcription Factors Crucial to Vibrissa Follicle Morphogenesis

59 citations , November 2011 in “Development”

This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.

research Congenital Hair Loss Disorders: Rare, But Not Too Rare

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.

research LPA-Producing Enzyme PA-PLA1α Regulates Hair Follicle Development by Modulating EGFR Signaling

151 citations , August 2011 in “The EMBO Journal”

The enzyme PA-PLA1α is important for proper hair follicle development.

research Novel Mutations in the Keratin-74 (KRT74) Gene Underlie Autosomal Dominant Woolly Hair/Hypotrichosis in Pakistani Families

40 citations , December 2010 in “Human Genetics”

research The Naked Truth: Sphynx and Devon Rex Cat Breed Mutations in KRT71

75 citations , October 2010 in “Mammalian genome”

In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.

research Biology and Genetics of Hair

89 citations , September 2010 in “Annual Review of Genomics and Human Genetics”

This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.

research APCDD1 Is a Novel Wnt Inhibitor Mutated in Hereditary Hypotrichosis Simplex

199 citations , April 2010 in “Nature”

A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.

research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74, a Potential Determinant of Human Hair Texture

97 citations , March 2010 in “The American Journal of Human Genetics”

A mutation in the KRT74 gene causes tightly curled hair.

research Identification of the Rat Rex Mutation as a 7-Bp Deletion at Splicing Acceptor Site of the Krt71 Gene

45 citations , January 2010 in “Journal of Veterinary Medical Science”

This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.

research Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia

42 citations , October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

research The Keratins of the Human Beard Hair Medulla: The Riddle in the Middle

87 citations , July 2009 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that beard hair medulla cells express an unexpected range of keratins, showing variability and promiscuous behavior in keratin interactions distinct from other hair follicle cells.

research Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, P2Y5/LPA6

253 citations , April 2009 in “Journal of Biological Chemistry”

This study found that p2y5 functions as a novel LPA receptor involved in the G13-Rho signaling pathway, with implications for human hair growth, and proposes renaming it to LPA6.

Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

research Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

181 citations , January 2009 in “Nature Genetics”

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.

research The Human Keratins: Biology And Pathology

1398 citations , May 2008 in “Histochemistry and Cell Biology”

This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.

research Disruption of P2RY5, an Orphan G Protein–Coupled Receptor, Underlies Autosomal Recessive Woolly Hair

210 citations , February 2008 in “Nature genetics”

This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

research Dynamic Expression of the Zinc-Finger Transcription Factor Trps1 During Hair Follicle Morphogenesis and Cycling

46 citations , November 2007 in “Gene Expression Patterns”

This study observed that Trps1 gene expression in mice is precisely regulated in skin development, particularly during hair follicle morphogenesis, with distinct localization patterns in different cell types.

research Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

194 citations , November 2006 in “Science”

This study identified a gene mutation in the LIPH gene associated with inherited hair loss and hair growth defects in certain populations, suggesting lipase H plays a role in hair development.

research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

97 citations , March 2006 in “Journal of Investigative Dermatology”

This study identified four novel DSG4 mutations associated with monilethrix in 12 Jewish families, suggesting a recessive inheritance pattern and broader prevalence of DSG4-related hair disorders than previously recognized.

research Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions

81 citations , March 2006 in “Journal of Investigative Dermatology”

Mutations in the DSG4 gene cause specific hair and scalp issues.

research A Mutation in the Hair Matrix and Cuticle Keratin KRTHB5 Gene Causes Ectodermal Dysplasia of Hair and Nail Type

60 citations , March 2006 in “Journal of Medical Genetics”

This study identified a homozygous missense mutation in the KRTHB5 gene linked to pure hair–nail ectodermal dysplasias in a large consanguineous Pakistani family, providing new insights into the condition's molecular pathogenesis.

research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-Like Congenital Hypotrichosis

74 citations , January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

research Human Hair Keratin-Associated Proteins

226 citations , January 2006 in “International review of cytology”

Keratin-associated proteins are crucial for hair strength and structure.

research Human Hair Keratin-Associated Proteins

71 citations , August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.

research A Missense Mutation in the Type II Hair Keratin hHb3 Is Associated with Monilethrix

79 citations , March 2005 in “Journal of Medical Genetics”

This study identified a novel heterozygous missense mutation in the hHb3 gene associated with monilethrix, highlighting its role in this hair disorder.

research Expression of Hair Keratins in the Adult Nail Unit: An Immunohistochemical Analysis of Onychogenesis in the Proximal Nail Fold, Matrix, and Nail Bed

110 citations , August 2004 in “British Journal of Dermatology”

In this study, researchers identified the ventral matrix as the primary source of nail plate formation, while the dorsal portion is generated by the apical matrix.

research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy

52 citations , November 2003 in “Journal of Investigative Dermatology”

In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.

research A Small Deletion Hotspot in the Type II Keratin Gene mK6irs1/Krt2-6g on Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation

53 citations , October 2003 in “Genetics”

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 Alopecia in a Novel Mouse Model RCO3 Is Caused by mK6irs1 Deficiency

42 citations , September 2003 in “Journal of Investigative Dermatology”

A missing mK6irs1 gene causes hair loss in mice.

Phosphatidic Acid Has Potential to Promote Hair Growth In Vitro and In Vivo, and Activates Mitogen-Activated Protein Kinase/Extracellular Signal-Regulated Kinase Kinase in Hair Epithelial Cells

research Phosphatidic Acid Has Potential to Promote Hair Growth In Vitro and In Vivo, and Activates Mitogen-Activated Protein Kinase/Extracellular Signal-Regulated Kinase Kinase in Hair Epithelial Cells

46 citations , August 2003 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study found that phosphatidic acid promotes hair growth by stimulating cell proliferation and protecting against apoptosis in murine hair epithelial cells, unlike lysophosphatidic acid, which showed limited effects.

research K6irs1, K6irs2, K6irs3, And K6irs4 Represent The Inner-Root-Sheath-Specific Type II Epithelial Keratins Of The Human Hair Follicle

130 citations , April 2003 in “Journal of Investigative Dermatology”

This study reports the cloning and expression details of two new human type II keratins, K6irs3 and K6irs4, in the hair follicle's inner root sheath, suggesting a distinct functional role related to hair structure.

research Hard and Soft Principles Defining the Structure, Function, and Regulation of Keratin Intermediate Filaments

686 citations , February 2002 in “Current Opinion in Cell Biology”

Keratin filaments are crucial for cell structure and protection, with ongoing discoveries about their genes and functions.

research Molecular Mechanisms Regulating Hair Follicle Development

854 citations , February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology”

This review summarizes recent advances in understanding the molecular mechanisms of hair follicle formation and discusses potential future clinical applications for treating hair loss and skin tumors, but it reports no new clinical results.

research The Catalog of Human Hair Keratins

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.

research Morphogenesis and Renewal of Hair Follicles from Adult Multipotent Stem Cells

949 citations , January 2001 in “Cell”

This study demonstrated that multipotent stem cells in adult mice whisker follicles migrate to produce whisker growth, and that this process requires precise control of stem cell trafficking.

research Forkhead/Winged-Helix Transcription Factor Whn Regulates Hair Keratin Gene Expression: Molecular Analysis of the Nude Skin Phenotype

75 citations , April 2000 in “Developmental Dynamics”

This study suggests that the structural integrity and physical proximity of Whn's DNA binding and activation domains are crucial for hair keratin gene activation and may explain the nude phenotype.

research Characterization of a 300 Kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain

77 citations , March 2000 in “Journal of Investigative Dermatology”

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

research The Role of the Hairless (Hr) Gene in the Regulation of Hair Follicle Catagen Transformation

166 citations , July 1999 in “American Journal Of Pathology”

This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.

research The Catalog of Human Hair Keratins

235 citations , July 1999 in “Journal of biological chemistry/The Journal of biological chemistry”

This study establishes a catalog of human type I hair keratins and identifies their specific roles and expression patterns during hair differentiation and growth in scalp follicles.

research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes

74 citations , 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.

research Alopecia Universalis Associated With a Mutation in the Human Hairless Gene

412 citations , January 1998 in “Science”

This study identified a missense mutation in the human hairless gene associated with a rare form of recessively inherited alopecia universalis, pinpointed on chromosome 8p12.

research Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix

175 citations , August 1997 in “Nature Genetics”

research Monilethrix: An Ultrastructural Study

34 citations , December 1984 in “Journal of Cutaneous Pathology”

This study observed that the thinning and structural abnormalities in monilethrix-affected hair occur at the internodes due to possible periodic dysfunction of the hair matrix, particularly in the cortex.