Bernd Wissinger - Ausgewählte Originalarbeiten Translate this page of the cone photoreceptor cGMP gated channel are responsible forAchromatopsia (ACHM3) linked to chromosome 8q21 Human Molecular genetics 9 2107-2116. http://www.achromatopsie.de/leute/bernd_wissinger_publikationen.htm
Extractions: Bernd Wissinger Lebenslauf Publikationen Stand der Forschung ausgewählte Originalarbeiten Hiesel, R., Wissinger, B., Schuster, W., Brennicke, A. (1989) RNA editing in plant mitochondria. Science 246: 1632-1634. Wissinger, B., Schuster, W., Brennicke, A. (1991) Trans-splicing in Oenothera mitochondria: nad1 mRNAs are edited in exon and trans splicing group II intron sequences. Cell 65: 473-482. Wissinger, B., Schuster, W., Brennicke, A. (1992) Regenerating good sense: RNA editing and trans-splicing in plant mitochondria. Trends Genet 8: 322-328. Wissinger, B., Besch, D., Baumann, B., Fauser, S., Christ-Adler, M., Jurklies, B., Zrenner, E., Leo-Kottler, B. (1997) Mutation analysis of the ND6 gene in patients with Leber`s hereditary optic neuropathy. Biochem Biophys Res Commun 234: 511-515.
Susanne Kohl - Publikationen Translate this page Molecular genetic findings in patients with congenital cone dysfunction. Eksandh L, Kohl S, Wissinger B. Clinical features of achromatopsia in Swedish http://www.achromatopsie.de/leute/susanne_kohl_publikationen.htm
Extractions: Susanne Kohl Lebenslauf Publikationen Stand der Forschung Publikationen: Originalarbeiten: Jägle H, Kohl S, Apfelstedt-Sylla E, Wissinger B, Sharpe LT. Manifestation of Rod Monochromacy. Col Res Appl. Suppl. 2001; 26:S96-99. Eksandh L, Kohl S, Wissinger B. Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genet. 2002; 23:109-20.
OMIM Entry 216900 The chromosomal assignment for the achromatopsia locus was given as 2p11.2q12 . at least in this instance, a common genetic basis for phototransduction http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?216900
Genome Biology | Full Text | A Second Gene For Color Blindness Total color blindness, or achromatopsia, is a rare inherited disorder whose genomics to isolate a genetic factor in the development of achromatopsia. http://genomebiology.com/2000/1/5/reports/0074
Extractions: Analysis of families suffering from total color blindness has revealed one potential cause of the condition - mutations in a gene encoding a subunit of the retinal cone cGMP-gated ion channel. Mutations in the gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia ( ) linked to chromosome 8q21.
LIST OF PUBLICATIONS Pickford,EW, Pickford,R., Bose,J., Joarder,BS, Nag,PK, Ray,GG and Sen,RN Incompleteachromatopsia in Bishnupur genetics and heterozygote problems http://icmr.nic.in/icmrsql/reportpub.asp?expno=00001402
Extractions: Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Add article to my folders ... Download to citation manager PubMed PubMed Citation Articles by Ben Simon, G J Articles by Melamed, S Related Collections Vision Research
Genetic Conditions / Rare Conditions Information Site Information on genetic conditions and birth defects for professionals, educators, Links to lay advocacy and support groups, clinics with genetic http://www.kumc.edu/gec/support/groups.html
How Do People Inherit Colorblindness? How Often? For reasons having to do with the genetic coding of color vision, Achromatopsiais a form of colorblindness characterized by the total loss of all color http://webexhibits.org/causesofcolor/2C.html
Extractions: (no cones) Most kinds of congenital colorblindness are caused by defects in the X chromosome. Since females have two X chromosomes and males have an X chromosome and a Y chromosome, colorblindness is much more common in males: females must have defects in both chromosomes before they exhibit colorblindness. A female with the colorblindness defect in one X chromosome is a carrier of colorblindness. Male children of a female carrier are as likely to be colorblind as male children of a male with colorblindness, and male children of a male with colorblindness and a female carrier are extremely likely to be colorblind. Approximately 5% to 8% of the men and 0.5% of the women of the world are born colorblind. That's as high as one out of twelve men and one out of two hundred women. People who are protans (red weak) and deutans (green weak) comprise 99% of this group. Molecular genetics
