Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm

December 2011 in “ Journal of Investigative Dermatology ”

Regina C. Betz, Rita Cabral, Angela M. Christiano, Eli Sprecher

Studysummary This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.

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 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 A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family

7 citations , May 2010 in “Journal of Cutaneous Pathology”

This study identified a novel locus for hereditary hypotrichosis simplex on chromosome 13q12.12~12.3 in a four-generation Chinese family.

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.

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 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 The Genetics of Hair Shaft Disorders

59 citations , June 2008 in “Journal of The American Academy of Dermatology”

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but 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 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 Scratching the Surface of Skin Development

788 citations , February 2007 in “Nature”

This review explores how adult skin epithelia preserve stem cell populations for hair follicle regeneration and wound healing, but reports no new experimental results.

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 Hairless and Wnt Signaling: Allies in Epithelial Stem Cell Differentiation

74 citations , September 2006 in “Cell Cycle”

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

research More Than One Gene Involved in Monilethrix: Intracellular but Also Extracellular Players

35 citations , May 2006 in “Journal of Investigative Dermatology”

Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.

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 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 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 Genetic Hair and Nail Disorders

37 citations , January 2005 in “Clinics in dermatology”

This review discusses recent advances in understanding the genetics of hair and nail disorders and reports no new clinical results.

research Ligand-Independent Actions of the Vitamin D Receptor Maintain Hair Follicle Homeostasis

144 citations , December 2004 in “Molecular Endocrinology”

This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.

research Histopathology of Hypotrichosis with Juvenile Macular Dystrophy

19 citations , May 2004 in “The American Journal of Dermatopathology”

In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.

research An Unusual Ala12Thr Polymorphism in the 1A Alpha-Helical Segment of the Companion Layer-Specific Keratin K6hf: Evidence for a Risk Factor in the Etiology of the Common Hair Disorder Pseudofolliculitis Barbae

88 citations , March 2004 in “Journal of Investigative Dermatology”

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 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.

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.