Inherited Disorders of the Hair

November 2024 in “ Elsevier eBooks ”

Eunice Lee, Mazen Kurban, Angela M. Christiano

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research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82

9 citations , February 2022 in “Nature communications”

This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.

research Pili Torti: A Feature of Numerous Congenital and Acquired Conditions

9 citations , August 2021 in “Journal of clinical medicine”

This review discusses pili torti, a rare hair shaft disorder, and reports no new clinical results; it emphasizes the need to investigate underlying conditions in affected individuals.

research Dermal Adipose Tissue Secretes HGF to Promote Human Hair Growth and Pigmentation

29 citations , January 2021 in “Journal of Investigative Dermatology”

This study demonstrates that dermal white adipose tissue regulates human hair growth and pigmentation through hepatocyte growth factor secretion, highlighting potential therapeutic targets for hair-related disorders.

research Knockdown of FOXA2 Impairs Hair-Inductive Activity of Cultured Human Follicular Keratinocytes

5 citations , October 2020 in “Frontiers in Cell and Developmental Biology”

This study found that the trichogenicity of cultured human outer root sheath follicular keratinocytes decreased with longer cultivation periods and was significantly influenced by the expression of the transcription factor FOXA2.

research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis

8 citations , June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.

research A Subset of TREM2+ Dermal Macrophages Secretes Oncostatin M to Maintain Hair Follicle Stem Cell Quiescence and Inhibit Hair Growth

101 citations , March 2019 in “Cell Stem Cell”

This study found that Oncostatin M, via JAK-STAT5 signaling, keeps hair follicle stem cells inactive, and its removal leads to hair growth initiation in mice.

research Genome-Wide Association Study in Frontal Fibrosing Alopecia Identifies Four Susceptibility Loci Including HLA-B*07:02

115 citations , March 2019 in “Nature Communications”

This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.

research Variant PADI3 in Central Centrifugal Cicatricial Alopecia

95 citations , February 2019 in “The New England Journal of Medicine”

This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.

research Hypotrichosis With Juvenile Macular Dystrophy

4 citations , January 2018 in “International Journal of Trichology”

This case report describes a 4-year-old girl with hypotrichosis and juvenile macular dystrophy, linked to mutations in the cadherin 3 gene affecting P-cadherin expression.

research GWAS for Male-Pattern Baldness Identifies 71 Susceptibility Loci Explaining 38% of the Risk

57 citations , November 2017 in “Nature Communications”

This genome-wide association study identified 71 genetic loci linked to male pattern baldness, with 30 novel loci, explaining 38% of the risk and suggesting shared pathways with lifespan and cancer traits.

research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation

96 citations , June 2017 in “Nature Communications”

This study identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

research Meta-Analysis Identifies Novel Risk Loci and Yields Systematic Insights into the Biology of Male-Pattern Baldness

64 citations , March 2017 in “Nature communications”

This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.

research FOXN1 Duplication And Congenital Hypertrichosis

3 citations , March 2017 in “Pediatric Dermatology”

This case report documents the first known instance of FOXN1 duplication linked to congenital hypertrichosis.

research Genetic Prediction of Male Pattern Baldness

133 citations , February 2017 in “PLoS Genetics”

In this study, researchers used genetic data from over 52,000 men to identify over 250 genetic loci associated with severe hair loss and developed a predictive algorithm for determining hair loss risk.

research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

119 citations , November 2016 in “American journal of human genetics”

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

research A PAX1 Enhancer Locus Is Associated With Susceptibility to Idiopathic Scoliosis in Females

103 citations , March 2015 in “Nature Communications”

This study identified a genetic locus associated with idiopathic scoliosis in females, which might influence spinal gene expression and was previously linked to protection from early-onset alopecia.

research The Role of P-Cadherin in Skin Biology and Pathology: Lessons from the Hair Follicle

15 citations , February 2015 in “Cell & tissue research/Cell and tissue research”

This review examines the role of P-cadherin in skin and hair biology, emphasizing its importance in human hair growth, cycling, and pigmentation, and reports no new research findings.

research Novel KRT83 and KRT86 Mutations Associated with Monilethrix

18 citations , January 2015 in “Experimental Dermatology”

This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.

research Macrophages Contribute to the Cyclic Activation of Adult Hair Follicle Stem Cells

175 citations , December 2014 in “PLoS Biology”

This study found that macrophages near hair follicles contribute to the activation of skin epithelial stem cells in mice, suggesting a novel role for macrophages in regulating hair growth.

research Resting No More: Redefining Telogen, the Maintenance Stage of the Hair Growth Cycle

120 citations , November 2014 in “Biological Reviews”

This article explores the dynamic and energy-efficient nature of telogen hair follicles, challenging the notion of dormancy, and highlights their potential in advancing treatments for hair growth disorders.

research Alopecia Areata Is Driven by Cytotoxic T Lymphocytes and Is Reversed by JAK Inhibition

701 citations , August 2014 in “Nature medicine”

This study found that JAK inhibitors promote hair regrowth in both mice and human alopecia areata cases by blocking key immune pathways involved in disease development.

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

research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

21 citations , April 2014 in “PLoS ONE”

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

research Marie-Unna Hereditary Hypotrichosis

4 citations , January 2014 in “International Journal of Trichology”

This report presents a 12-year-old male with symptoms indicative of Marie-Unna type hereditary hypotrichosis, characterized by a specific pattern of hair loss evolving with age.

research Mutation Detection of Type II Hair Cortex Keratin Gene KRT86 in a Chinese Han Family With Congenital Monilethrix

4 citations , August 2013 in “Chinese Medical Journal”

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

research Loose Anagen Hair Syndrome in Black-Haired Indian Children

8 citations , August 2013 in “Pediatric Dermatology”

This article reviews loose anagen hair syndrome, an inheritable hair disorder affecting children and sometimes adults, but does not report any new clinical results.

research Position Effect on FGF13 Associated with X-Linked Congenital Generalized Hypertrichosis

44 citations , April 2013 in “Proceedings of the National Academy of Sciences of the United States of America”

This study found a significant association between reduced FGF13 levels and X-linked congenital generalized hypertrichosis, suggesting FGF13's potential role in hair follicle growth and the hair cycle.

research Androgenetic Alopecia: Identification Of Four Genetic Risk Loci And Evidence For The Contribution Of WNT Signaling To Its Etiology

74 citations , January 2013 in “Journal of Investigative Dermatology”

Four genetic risk spots found for hair loss, with WNT signaling involved and a link to curly hair.

research Desmogleins: Hair Perspective

4 citations , January 2013 in “International Journal of Trichology”

This study found that the distribution of desmogleins is associated with specific types of keratinization and hair anchorage, as well as hypotrichosis.

research Six Novel Susceptibility Loci for Early-Onset Androgenetic Alopecia and Their Unexpected Association with Common Diseases

87 citations , May 2012 in “PLOS Genetics”

This study found that early-onset androgenetic alopecia in individuals of European ancestry is significantly associated with increased odds of Parkinson's disease and is influenced by specific genetic loci, including some linked to reduced fertility.

research Cantú Syndrome Is Caused by Mutations in ABCC9

148 citations , May 2012 in “The American Journal of Human Genetics”

This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.

Dermal β-Catenin Activity in Response to Epidermal Wnt Ligands Is Required for Fibroblast Proliferation and Hair Follicle Initiation

research Dermal β-Catenin Activity in Response to Epidermal Wnt Ligands Is Required for Fibroblast Proliferation and Hair Follicle Initiation

207 citations , March 2012 in “Development”

In this mouse study, researchers found that dermal Wnt signaling/β-catenin activity is essential for fibroblast proliferation and initiating hair follicle formation by interacting with epidermal Wnt ligands.

research Susceptibility Variants on Chromosome 7p21.1 Suggest HDAC9 as a New Candidate Gene for Male-Pattern Baldness

51 citations , November 2011 in “British Journal of Dermatology”

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 Adipocyte Lineage Cells Contribute to the Skin Stem Cell Niche to Drive Hair Cycling

499 citations , September 2011 in “Cell”

This study found that intradermal adipocyte lineage cells in mice are necessary and sufficient to activate follicular stem cells, highlighting their role in regulating skin stem cell activity.

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 Marie-Unna Hereditary Hypotrichosis: Case Report and Review of the Literature

12 citations , March 2011 in “Pediatric dermatology”

This report describes a new case of Marie-Unna hereditary hypotrichosis in an 18-year-old girl, marking the first occurrence in a previously unaffected family.

research A Mutation in the Type II Hair Keratin KRT86 Gene in a Han Family with Monilethrix

3 citations , February 2011 in “Journal of Biomedical Research/Journal of biomedical research”

This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.

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 Keratin Gene Mutations in Disorders of Human Skin and Its Appendages

185 citations , December 2010 in “Archives of Biochemistry and Biophysics”

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

research Genome-Wide Association Study in Alopecia Areata Implicates Both Innate and Adaptive Immunity

717 citations , June 2010 in “Nature”

This study identified key genetic regions associated with alopecia areata, highlighting both acquired and innate immune involvement, with a novel link to the upregulation of ULBP ligands in autoimmune disease.

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 Loose Anagen Hair Syndrome

40 citations , January 2010 in “International Journal of Trichology”

This review discusses the diagnostic criteria and guidelines for managing loose anagen syndrome and differentiating it from non-scarring alopecias, but it reports no new clinical results.

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.

WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

research WNT10A Mutations Are a Frequent Cause of a Broad Spectrum of Ectodermal Dysplasias with Sex-Biased Manifestation Pattern in Heterozygotes

197 citations , June 2009 in “American journal of human genetics”

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

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 Susceptibility Variants for Male-Pattern Baldness on Chromosome 20p11

140 citations , October 2008 in “Nature Genetics”

research Male-Pattern Baldness Susceptibility Locus at 20p11

111 citations , October 2008 in “Nature Genetics”

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 A Position Effect on TRPS1 Is Associated with Ambras Syndrome in Humans and the Koala Phenotype in Mice

60 citations , August 2008 in “Human molecular genetics online/Human molecular genetics”

This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.

research Dlx3 Is a Crucial Regulator of Hair Follicle Differentiation and Cycling

132 citations , August 2008 in “Development”

This research found that Dlx3 plays a central role in hair formation and regeneration, with its absence leading to alopecia through disrupted differentiation and signaling pathways.

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 Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability Within a Pakistani Family

25 citations , March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology”

The researchers identified a specific mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis, which presents with variable hair loss severity in affected individuals from a large Pakistani family.

research Hair Follicle-Specific Keratins And Their Diseases

138 citations , March 2007 in “Experimental cell research”

This review discusses hair keratins and hair follicle-specific epithelial keratins and their association with inherited hair disorders, reporting no new clinical results.

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 Edar Signaling in the Control of Hair Follicle Development

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

This review discusses the role of Edar signaling in hair follicle development and cycling, emphasizing its impact on cell fate, differentiation, and interactions with other pathways, but reports no new results.

research Hairless Triggers Reactivation of Hair Growth by Promoting Wnt Signaling

137 citations , September 2005 in “Proceedings of the National Academy of Sciences of the United States of America”

In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.

research Keratins of the Human Hair Follicle

276 citations , January 2005 in “International review of cytology”

More research is needed to understand how hair keratins work and their role in hair disorders.

research Physical And Functional Interaction Between The Vitamin D Receptor And Hairless Corepressor, Two Proteins Required For Hair Cycling

215 citations , September 2003 in “Journal of Biological Chemistry”

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

research Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions

23 citations , July 2003 in “Journal of Investigative Dermatology”

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

research Is Loose Anagen Hair Syndrome a Keratin Disorder?

84 citations , April 2002 in “Archives of Dermatology”

This study found that a keratin mutation may cause diffuse partial woolly hair associated with loose anagen hair syndrome in some families, but other genetic factors could play a role in different cases.

research HOXC13 Is Involved in the Regulation of Human Hair Keratin Gene Expression

132 citations , February 2002 in “Journal of Biological Chemistry”

This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.

research The Hairless Gene Mutated in Congenital Hair Loss Disorders Encodes a Novel Nuclear Receptor Corepressor

178 citations , October 2001 in “Genes & Development”

This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.

research Atrichia Caused by Mutations in the Vitamin D Receptor Gene Is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene

139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.

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 A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers

83 citations , October 1998 in “The American Journal of Human Genetics”

A specific gene mutation causes complete hair loss in an Irish Traveller family.

research Uncombable Hair (Pili Trianguli Et Canaliculi): Evidence for Dominant Inheritance with Complete Penetrance Based on Scanning Electron Microscopy

33 citations , September 1987 in “American Journal of Medical Genetics”

This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.