A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss

Biochemical and Biophysical Research Communications

Volumn 447, Issue 3, 2014, Pages 496-502

  Masuda, Sawako ^a   Namba, Kazunori ^b   Mutai, Hideki ^b   Usui, Satoko ^a   Miyanaga, Yuko ^b   Kaneko, Hiroki ^c   Matsunaga, Tatsuo ^b  

^a MIE NATIONAL HOSPITAL   (Japan)

^b NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^c NIHON UNIVERSITY   (Japan)

Author keywords

BMP; Conductive hearing loss; Docking simulation; Heparin; NOG; Symphalangism

Indexed keywords

BONE MORPHOGENETIC PROTEIN; BONE MORPHOGENETIC PROTEIN RECEPTOR; NOGGIN; PROTEOHEPARAN SULFATE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BINDING AFFINITY; BINDING SITE; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; CONDUCTION DEAFNESS; CRYSTAL STRUCTURE; FEMALE; GENETIC ANALYSIS; HUMAN; JAPANESE (PEOPLE); MALE; MISSENSE MUTATION; MOLECULAR DOCKING; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SYNDROME; SYNOSTOSIS;

BMP; CONDUCTIVE HEARING LOSS; DOCKING SIMULATION; HEPARIN; NOG; SYMPHALANGISM;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; BINDING SITES; BONE MORPHOGENETIC PROTEIN 7; CARRIER PROTEINS; CHILD; CRYSTALLOGRAPHY, X-RAY; CYSTEINE; FEMALE; FINGER JOINT; HEARING LOSS, CONDUCTIVE; HEPARIN; HETEROZYGOTE; HUMANS; JAPAN; JOINT DISEASES; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SIGNAL TRANSDUCTION;

EID: 84900295770     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2014.04.015     Document Type: Article

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