Congenital hair loss disorders: Rare, but not too rare

A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene

(2011) M. Farooq et al.   BRITISH JOURNAL OF DERMATOLOGY

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex

(2011) Cheng Zhou et al.   HUMAN MUTATION

Order and disorder in corneocyte adhesion

(2011) Akemi ISHIDA-YAMAMOTO et al.   JOURNAL OF DERMATOLOGY

No Evidence of Skin Blisters with Human Desmocollin-3 Gene Mutation

(2010) Aimee S. Payne   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture

(2010) Yutaka Shimomura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

(2010) Vinzenz Oji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biology and Genetics of Hair

(2010) Yutaka Shimomura et al.   Annual Review of Genomics and Human Genetics

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin

(2010) Cécile Caubet et al.   FASEB JOURNAL

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

(2010) Naveed Wasif et al.   HUMAN GENETICS

Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin

(2010) Shirli Israeli et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

(2010) Yutaka Shimomura et al.   NATURE

A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

(2009) Muhammad Ayub et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification and Characterization of a Novel Lysophosphatidic Acid Receptor, p2y5/LPA6

(2009) Keisuke Yanagida et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family

(2009) Chao Xu et al.   JOURNAL OF CUTANEOUS PATHOLOGY

Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis

(2009) Yutaka Shimomura et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Founder Mutations in the Lipase H Gene in Families with Autosomal Recessive Woolly Hair/Hypotrichosis

(2009) Yutaka Shimomura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2009) Yutaka Shimomura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

(2009) Yaran Wen et al.   NATURE GENETICS

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

(2008) M.A. Simpson et al.   CARDIOLOGY

P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle

(2008) Y. Shimomura et al.   DEVELOPMENT

The human keratins: biology and pathology

(2008) Roland Moll et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis

(2008) Yutaka Shimomura et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

(2008) Sandra M Pasternack et al.   NATURE GENETICS

Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

(2008) Yutaka Shimomura et al.   NATURE GENETICS