|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0017262,
umls-concept:C0017337,
umls-concept:C0025914,
umls-concept:C0026809,
umls-concept:C0034693,
umls-concept:C0034721,
umls-concept:C0035298,
umls-concept:C0185117,
umls-concept:C0204727,
umls-concept:C0205409,
umls-concept:C1417909,
umls-concept:C2603343,
umls-concept:C2911684
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2003-4-25
|
|
pubmed:abstractText |
It has been shown recently that mutations in NYX (nyctalopin on chromosome X), encoding a novel protein associated with the leucine-rich repeat (LRR) protein superfamily, are responsible for the complete form of X-linked congenital stationary night blindness (CSNB1). This study describes the isolation and molecular characterization of the mouse orthologue Nyx and its expression pattern in the retina.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
May
|
|
pubmed:issn |
0146-0404
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
44
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
2260-6
|
|
pubmed:dateRevised |
2006-11-15
|
|
pubmed:meshHeading |
pubmed-meshheading:12714669-Amino Acid Sequence,
pubmed-meshheading:12714669-Animals,
pubmed-meshheading:12714669-Cloning, Molecular,
pubmed-meshheading:12714669-Gene Expression,
pubmed-meshheading:12714669-Gene Library,
pubmed-meshheading:12714669-Humans,
pubmed-meshheading:12714669-Immunoenzyme Techniques,
pubmed-meshheading:12714669-In Situ Hybridization,
pubmed-meshheading:12714669-Mice,
pubmed-meshheading:12714669-Mice, Inbred C57BL,
pubmed-meshheading:12714669-Molecular Sequence Data,
pubmed-meshheading:12714669-Neurons,
pubmed-meshheading:12714669-Night Blindness,
pubmed-meshheading:12714669-Proteoglycans,
pubmed-meshheading:12714669-RNA,
pubmed-meshheading:12714669-RNA, Messenger,
pubmed-meshheading:12714669-Rats,
pubmed-meshheading:12714669-Rats, Inbred BN,
pubmed-meshheading:12714669-Retina,
pubmed-meshheading:12714669-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:12714669-Sequence Homology, Amino Acid
|
|
pubmed:year |
2003
|
|
pubmed:articleTitle |
Isolation of the mouse nyctalopin gene nyx and expression studies in mouse and rat retina.
|
|
pubmed:affiliation |
Molekulargenetisches Labor, Universitäts-Augenklinik Tübingen, Germany.
|
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|
