The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein

Nature Genetics

Volumn 26, Issue 3, 2000, Pages 324-327

  Pusch, Carsten M ^a   Zeitz, Christina ^b   Brandau, Oliver ^c   Pesch, Katrin ^a   Achatz, Helene ^c   Feil, Silke ^b   Scharfe, Curt ^c   Maurer, Johannes ^a   Jacobi, Felix K ^a   Pinckers, Alfred ^d   Andreasson, Sten ^e   Hardcastle, Alison ^f   Wissinger, Bernd ^a   Berger, Wolfgang ^b   Meindl, Alfons ^c  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e LUND UNIVERSITY HOSPITAL   (Sweden)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ELECTRORETINOGRAM; GENE MAPPING; GENE MUTATION; HUMAN; MARKER GENE; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0033762779     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/81627     Document Type: Article

References (28)

1. Congenital stationary night blindness: A critical review for molecular approaches
2. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness
3. Congenital stationary night blindness with negative electroretinogram: A new classification
4. Clinical findings in patients with congenital stationary night blindness of the Schubert-Bornschein type
5. Localization of a novel X-linked congenital stationary night blindness locus: Close linkage to the RP3 type retinitis pigmentosa gene region
6. Complete congenital stationary night blindness maps on Xp11.4 in a Sardinian family
7. Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci retinitis pigmentosa 2 and retinitis pigmentosa 3 on proximal Xp
8. The leucine-rich repeat: A versatile binding motif
9. Drosophila chaoptin, a member of the leucine-rich repeat family, is a photoreceptor cell-specific adhesion molecule
10. Ectopic expression of connectin reveals a repulsive function during growth cone guidance and synapse formation
11. Beitrag zur Analyse des menschlichen Electroretinogramm
12. An L-type calcium channel gene is mutated in incomplete X-linked congenital stationary night blindness
13. Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness
14. The GARP gene encodes a new member of the family of leucine-rich repeat-containing proteins
15. Mutations in a gene encoding a new leucine-rich protein, nyctalopin, cause X-linked complete congenital stationary night blindness
16. Analysis and quantitation of mRNAs encoding the α- and β-subunits of rod photoreceptor cGMP phosphodiesterase in neonatal retinal degeneration (rd) mouse retinas
17. The family of the small leucine-rich proteoglycans: Key regulators of matrix assembly and cellular growth
18. Structure and functional expression of the acid-labile subunit of the insulin-like growth factor binding complex
19. Human platelet glycoprotein V: Characterization of the polypeptide and the related Ib-V-IX receptor system of adhesive, leucine-rich glycoproteins
20. Slit: An EGF-homologous locus of D. melanogaster involved in the development of the embryonic central nervous system
21. The acid-labile subunit of the serum insulin-like growth factor-binding protein complexes: Structural determination by molecular modeling and electron microscopy
22. Swiss-Model and the Swiss-PdbViewer: An environment for comparative protein modeling
23. ProMod and Swiss-Model: Internet-based tools for automated comparative protein modeling
24. Protein modeling by E-mail
25. Cloning, modeling, and chromosomal localization for a small leucine-rich repeat proteoglycan (SLRP) family member expressed in human eye
26. A naturally occuring mouse model of X-linked congenital stationary night blindness
27. Characterization of a human fovea cDNA library and regional differential gene expression in the retina
28. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP)