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  • autosomal dominant retinitis pigmentosa
  • Thanks to success in preclinical studies funded in part by the Foundation Fighting Blindness, the Irish biopharmaceutical company Genable Technologies has received a €5 million (equivalent to about $6.8 million) venture capital investment to advance its gene therapy for autosomal dominant retinitis pigmentosa (adRP) into a clinical trial. (blindness.org)
  • proteins
  • We recently demonstrated that a component of this specificity in soybeans is defined by plant NBS-LRR resistance (R) genes that recognize effector proteins delivered by the type III secretion system (T3SS) of the rhizobial symbionts. (uky.edu)
  • The gene codes for two proteins, including the INK4 family member p16 (or p16INK4a) and p14arf. (wikipedia.org)
  • This gene encodes two proteins, p16 and p14ARF, which are transcribed from the same second and third exons but alternative first exons: p16 from exon 1α and ARF from exon 1β. (wikipedia.org)
  • adRP
  • To test for possible novel associations between splicing factors and adRP, we screened four tri-snRNP splicing factor genes (EFTUD2, PRPF4, NHP2L1, and AAR2) as candidate disease genes. (ugent.be)
  • copies
  • In order for a person to be born with red hair, he needs two copies of that gene for it to show up. (reference.com)
  • The treatment works by silencing, or "knocking down," the defective copies of the rhodposin gene and, at the same time, delivering normally functioning copies of the gene to retinal cells. (blindness.org)
  • locus
  • Often mistaken for a "double merle", a harlequin merle (or just harlequin), is a dog that carries both the merle pattern gene and the co-dominate modifying gene (carried on a different locus) for harlequin. (wikipedia.org)
  • citation needed] The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. (wikipedia.org)
  • sequences
  • Exon-PCR and Sanger methods were used to sequence the NHP2L1 and AAR2 genes, while the sequences of EFTUD2 and PRPF4 were obtained by using long-range PCRs spanning coding and non-coding regions followed by next-generation sequencing. (ugent.be)
  • phenotypic
  • We aimed to investigate the impact of this phenotypic heterogeneity on successfully finding new genes that are involved in ADH. (bmj.com)
  • molecular
  • Aims Autosomal-dominant hypercholesterolaemia (ADH) is a heterogeneous common disorder, and uncovering the molecular determinants that underlie ADH is a major focus of cardiovascular research. (bmj.com)
  • Taken together, these new findings identify C/EBPβ as an OM-induced transactivator in LDLR gene transcription and provide a better understanding of the molecular mechanism underlying the sterol-independent regulation of LDLR expression. (biochemj.org)
  • Synonyms for autosomal-dominant cerebellar ataxias (ADCA) used prior to the current understanding of the molecular genetics were Marie's ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic term "spinocerebellar degeneration. (wikipedia.org)
  • coat
  • Expression of the panda gene is exhibited openly on any coat that is not already white. (wikipedia.org)
  • A dilute black (BB or Bb) dog is generally known as blue, but a dog with a merle coat does not test BB or Bb but still is a blue dilute from the "merle" gene The merle gene creates mottled patches of color in a solid or piebald coat, blue or odd-colored eyes, and can affect skin pigment as well. (wikipedia.org)
  • patients
  • In addition, microarray analysis and various validation experiments comparing gene expression levels in osteoclasts from ADO II patients and healthy donors have demonstrated that ITGB5 expression is increased in the former and that PFR1, SERPINE2, and WARS expression are all decreased in ADO II osteoclasts. (springer.com)
  • Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients. (springer.com)
  • Results: We detected novel missense changes in individual patients in the sequence of the genes PRPF4 and EFTUD2, but the role of these changes in relationship to disease could not be verified. (ugent.be)
  • Disease
  • Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties. (springer.com)
  • As a cause of dominant disease, the gene can get passed down from generation to generation. (blindness.org)
  • The spontaneous mouse mutant Dominant megacolon (Dom) is a valuable model for the study of human congenital megacolon (Hirschsprung disease). (mysciencework.com)
  • These results identify the transcriptional regulator Sox10 as an essential factor in mouse neural crest development and as a further candidate gene for human Hirschsprung disease, especially in cases where it is associated with features of Waardenburg syndrome. (mysciencework.com)
  • The CDKN2A gene also contains one of 27 SNPs associated with increased risk of coronary artery disease. (wikipedia.org)
  • carries
  • The coloration is present from birth and does not change throughout the horse's lifetime, unless the horse also carries the gray gene. (wikipedia.org)
  • naturally
  • RESULTS: We screened a core collection of Medicago truncatula genotypes with several strains of Sinorhizobium meliloti and identified a naturally occurring dominant gene that restricts nodulation by S. meliloti Rm41. (uky.edu)
  • Because it was discovered in naturally occurring populations of cats, the Manx gene could confer some kind of selective advantage to the cats, or it may simply be an example of the founder effect. (wikipedia.org)
  • black
  • Black is a DOMINANT gene. (66.228.45)
  • Just as some individuals today carry genes to produce descendants with different color hair and eyes, our first parents, Black Africans, possessed genes to produce all the varieties and races of men. (66.228.45)
  • The dominant color in the breed is red, followed by black and tan. (wikipedia.org)
  • occur
  • As it so happens, when you change one gene just a little, there is often a cascade of other changes that occur as a result. (stormfront.org)
  • creates
  • The sabino pattern is one of the most complex, as there has been one gene identified, SB-1, that creates one type of sabino patterning, but not all sabino-patterned horses carry it. (wikipedia.org)
  • expression
  • 278 , 44246-have demonstrated that OM transiently induces EGR-1 (early growth response gene product 1) expression and EGR-1 activates LDLR transcription primarily through a protein-protein interaction with C/EBPβ, which serves as a co-activator of EGR-1. (biochemj.org)
  • One theory holds that such horses carry the frame gene, but so minimal in expression that they appear solid. (wikipedia.org)
  • order
  • This means they only need one copy of a gene to be present in order to be expressed. (stormfront.org)
  • These findings provide a basis for the revision of our assessment on who is affected and who is not and emphasise the essence of pedigree information and mapping data before exome sequencing is applied in order to increase success rates of finding new genes related to ADH. (bmj.com)
  • Usually, the "type" number of "SCA" refers to the order in which the gene was found. (wikipedia.org)
  • marker
  • The gene, designated as CMD2 , is flanked by the SSR and RFLP marker GY1 at 9 and 8 cM, respectively. (springer.com)
  • different
  • Certain "modifying genes" work in tandem (co-dominate expressive) with the merle gene to create a completely different look to the pattern. (wikipedia.org)
  • people
  • In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder. (wikipedia.org)
  • color
  • John's Wort with Ginkgo Biloba is an effective natural treatment for mild depression LifeTek St John's St. Color Blindness Dominant Gene Liver Damage Vitamin you may have pain and increased sensitivity to light. (kojoti.eu)
  • analysis
  • These 31 data sets - collectively representing 26,743 observations - form the basis of the "dominant gene" analysis (although the full body of research has informed and confirmed our point of view). (pwc.com)