Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

Recessive mutations in the neuronal isoforms of DST , encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

(2018) Paola Fortugno et al.   HUMAN MUTATION

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

(2017) Fiore Manganelli et al.   NEUROLOGY

Aurora kinase A regulates Survivin stability through targeting FBXL7 in gastric cancer drug resistance and prognosis

(2017) M Kamran et al.   Oncogenesis

Congenital insensitivity to pain: Fracturing without apparent skeletal pathobiology caused by an autosomal dominant, second mutation in SCN11A encoding voltage-gated sodium channel 1.9

(2016) Voraluck Phatarakijnirund et al.   BONE

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability

(2016) Gali Heimer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method

(2016) Arito Yozu et al.   NEUROSCIENCE RESEARCH

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

(2015) Kseniia Künzli et al.   EXPERIMENTAL DERMATOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P

(2014) Christopher Geoffrey Woods et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

(2014) A. Ferrier et al.   HUMAN MOLECULAR GENETICS

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

A Spaetzle-like role for nerve growth factor   in vertebrate immunity to Staphylococcus aureus

(2014) L. Hepburn et al.   SCIENCE

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Spectraplakins: Master orchestrators of cytoskeletal dynamics

(2012) Kathleen C. Suozzi et al.   JOURNAL OF CELL BIOLOGY

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort

(2012) G. L. Davidson et al.   JOURNAL OF NEUROLOGY

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

(2010) Richard W. Groves et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

(2009) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Sensory deficit in Parkinson's disease: evidence of a cutaneous denervation

(2008) M. Nolano et al.   BRAIN