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

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

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3–p22.3 in a Pakistani family and screening of the candidate genes

(2010) Sulman Basit et al.   HUMAN GENETICS

Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23–22.3

(2010) Gul Naz et al.   HUMAN GENETICS

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

Mutations in theP2RY5gene underlie autosomal recessive hypotrichosis in 13 Pakistani families

(2009) M. Tariq et al.   BRITISH JOURNAL OF DERMATOLOGY

Identification of aU2HRgene mutation in Turkish families with Marie Unna hereditary hypotrichosis

(2009) S. Düzenli et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

A Novel Mutation as the Basis for Asymptomatic Meesmann Dystrophy in a Danish Family

(2009) Kim Nielsen et al.   CORNEA

The molecular basis of human keratin disorders

(2009) Meral Julia Arin   HUMAN GENETICS

Mutations in the desmoglein 1 gene in five Pakistani families with striate palmoplantar keratoderma

(2009) Martha B. Dua-Awereh et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

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

Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3)

(2008) Zahid Azeem et al.   HUMAN GENETICS

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