Achromatopsia 3

10/01/2016 - "The recent discovery of rod monochromacy in some cetacean lineages provides a novel opportunity to investigate the effects of an evolutionary loss of cone photoreception on retinal organization. "
05/01/2007 - "Achromatopsia (ACHM) or rod monochromacy is an autosomal recessive and genetically heterogeneous retinal disorder. "
01/01/2022 - "Achromatopsia (ACHM), also known as rod monochromatism or total color blindness, is an autosomal recessively inherited retinal disorder that affects the cones of the retina, the type of photoreceptors responsible for high-acuity daylight vision. "
06/01/1999 - "Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. "
09/01/2014 - "Our results show that (1) lower levels of light available to the retina correspond with an increase in the number of retinal pseudogenes, (2) retinal protein networks generally degrade in a predictable manner, although the extensive loss of cone phototransduction genes in Heterocephalus raises further questions regarding SWS1-cone monochromacy versus functional rod monochromacy in this species, and (3) inactivation dates of retinal genes usually post-date inferred entrances into subterranean habitats. "

08/01/2002 - "The canine homolog of the cyclic nucleotide-gated channel beta-subunit gene (CNGB3), responsible for the human ACHM3 disease phenotype, was mapped within the zero-recombination interval for the cd locus. "
07/01/2000 - "Here we narrow the achromatopsia locus to 1.4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a highly conserved site in CNGB3, a new gene that encodes the beta-subunit of the cone cyclic nucleotide-gated cation channel. "
11/01/2008 - "Complete achromatopsia (i.e., rod monochromacy) is a congenital vision disorder in which cone function is absent or severely diminished, often due to mutations in one of two components of the cone phototransduction cascade (transducin or the cyclic-nucleotide gated channel). "

01/01/2021 - "This finding was restricted to cetacean species previously found to lack cone photoreceptor opsins, a condition known as rod monochromacy. "
04/01/2013 - "Rod monochromacy and the coevolution of cetacean retinal opsins."

11/01/2008 - "Complete achromatopsia (i.e., rod monochromacy) is a congenital vision disorder in which cone function is absent or severely diminished, often due to mutations in one of two components of the cone phototransduction cascade (transducin or the cyclic-nucleotide gated channel). "
07/01/2004 - "Tritanopia is also a rare autosomal dominant colour vision defect caused by mutations in the S pigment gene located on chromosome 7. Total colour blindness (achromatopsia or rod monochromacy) is a rare autosomal recessive trait caused by mutations in genes encoding the proteins of the photoreceptor cation channel or cone transducin that are essential for function of all classes of cone."

10/01/2020 - "Decreased tlr4, il-1β and nos, and the lack of diurnal difference in achm3 messenger RNA levels suggested an attenuated inhibition of the arousal system (hence, awake state promotion) under dLAN. "
01/01/2022 - "Negative sleep effects of dLAN were supported by the lower hypothalamic expression of sleep promoting sik3 and camkii genes, and higher mRNA expression of awake promoting achm3 gene in dLAN +F, compared to the LD condition. "

09/01/2014 - "Our results show that (1) lower levels of light available to the retina correspond with an increase in the number of retinal pseudogenes, (2) retinal protein networks generally degrade in a predictable manner, although the extensive loss of cone phototransduction genes in Heterocephalus raises further questions regarding SWS1-cone monochromacy versus functional rod monochromacy in this species, and (3) inactivation dates of retinal genes usually post-date inferred entrances into subterranean habitats. "
07/01/2004 - "Tritanopia is also a rare autosomal dominant colour vision defect caused by mutations in the S pigment gene located on chromosome 7. Total colour blindness (achromatopsia or rod monochromacy) is a rare autosomal recessive trait caused by mutations in genes encoding the proteins of the photoreceptor cation channel or cone transducin that are essential for function of all classes of cone."

01/01/2022 - "Negative sleep effects of dLAN were supported by the lower hypothalamic expression of sleep promoting sik3 and camkii genes, and higher mRNA expression of awake promoting achm3 gene in dLAN +F, compared to the LD condition. "

10/01/2020 - "We investigated the effects of exposure at ecologically relevant levels of dim light at night (dLAN) on sleep and the 24 h hypothalamic expression pattern of genes involved in the circadian timing (per2, bmal1, reverb-β, cry1, ror-α, clock) and sleep regulatory pathways (cytokines: tlr4, tnf-α, il-1β, nos; Ca2+-dependent pathway: camk2, sik3, nr3a; cholinergic receptor, achm3) in diurnal female zebra finches. "

07/01/1995 - "Electroretinograms were recorded from three patients with autosomal dominant retinitis pigmentosa and the pro-23-his rhodopsin mutation, two patients with rod monochromatism, and five normal subjects. "

10/01/2020 - "We investigated the effects of exposure at ecologically relevant levels of dim light at night (dLAN) on sleep and the 24 h hypothalamic expression pattern of genes involved in the circadian timing (per2, bmal1, reverb-β, cry1, ror-α, clock) and sleep regulatory pathways (cytokines: tlr4, tnf-α, il-1β, nos; Ca2+-dependent pathway: camk2, sik3, nr3a; cholinergic receptor, achm3) in diurnal female zebra finches. "

01/01/1997 - "Electroretinogram recordings from patients with advanced retinitis pigmentosa or congenital rod monochromatism indicate that these artifacts can be virtually eliminated with bipolar lenses. "