The protocol has been used to test several mutant mice, including dystrophin-deficient mutants, transgenic models of ... Jacquelin C, Strazielle C, Lalonde R (September 2011). "Neurologic function during developmental and adult stages in Dab1(scm ... This protocol became known as the "modified SHIRPA" and has been used to screen for dominant phenotypes in mice. Sanger Mouse ... mutant mice". Behav. Brain Res. 226 (1): 265-273. doi:10.1016/j.bbr.2011.09.020. PMID 21945093. S2CID 140205214. Masuya H, ...

The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an ... "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. Nishikata M, ... Kelly C, Nógrádi A, Walker R, Caddy K, Peters J, Carter N (1995). "Lurching, reeling, waddling and staggering in mice--is ... identical to the mouse homologue" (PDF). Gene. 126 (2): 291-2. doi:10.1016/0378-1119(93)90385-G. hdl:2027.42/30832. PMID ...

... mutant mice. Brain Res Bull 87, 383-86, 2012. PMID 22245534 (Laboratory mouse strains, Behavioural genetics). ... Brain Res Rev 67, 252-9, 2011, PMID 21356243 Jacquelin C, Strazielle C, Lalonde R. Neurologic function during developmental and ... Malformation of the radial glial scaffold in the dentate gyrus of reeler mice, scrambler mice, and ApoER2/VLDLR-deficient mice ... Scrambler is a spontaneous mouse mutant lacking a functional DAB1 gene, resulting in a phenotype resembling that seen in the ...

Moreover, the genetic murine model of SCA1, in which mice ubiquously express mutant Ataxin 1 [Q154] in all cells, demonstrates ... As the disease progresses, more severe neurologic symptoms can appear like dysmetria, where limb movements consistently ... A comparison of mRNA between ataxin null mice and mice with ataxin1154Q/+ shows that there are common changes in gene ... Studies in both mice models and Drosophila models have shown that heat shock proteins 40 and 70 may reduce toxicity of expanded ...

Mutant ALADIN also causes decreased nuclear import of aprataxin, a repair protein for DNA single-strand breaks, and DNA ligase ... Female mice homozygously null for ALADIN are sterile. The diagnosis of this condition involves examination by a health provider ... ALacrima Achalasia adrenal Insufficiency Neurologic disorder). In 2000, Huebner et al. mapped the syndrome to a 6 cM interval ... Mutant ALADIN remains mis-localized in the cytoplasm and causes selective failure of nuclear protein import and ...

"Erythroid-specific expression of the erythropoietin receptor rescued its null mutant mice from lethality". Blood. 100 (7): 2279 ... "Erythropoietin prevents motor neuron apoptosis and neurologic disability in experimental spinal cord ischemic injury". Proc. ... Specifically in mice, Epo demonstrated protective effects on nigral dopaminergic neurons in a mouse model of Parkinson's ... In one study Epo stimulated neural progenitor cells and prevented apoptosis in the embryonic brain in mice. Mice without EpoR ...

Interestingly, they found that the mutant mice did not display changes in their free-running activity period. DEC2 functions as ... "Fatal Insomnia - Neurologic Disorders". Merck Manuals Professional Edition. Retrieved 2021-05-06. Burchell JT, Panegyres PK ( ... They recreated these same mutations in mouse models and found that they caused the mice to sleep less. Understanding how these ... ADRB1 neurons in mice are active they are awake and are found in the dorsal pons. Through additional family studies, mutations ...

"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. FH (fumarate ... Fumarase deficiency is suspected in infants with multiple severe neurologic abnormalities in the absence of an acute metabolic ... the growth of mutants with a disruptive gene fumB encoding Fumarase B on D-tartrate was severely impaired. Fumarase deficiency ... In the newborn period, findings include severe neurologic abnormalities, poor feeding, failure to thrive, and hypotonia. ...

... and genetically modified mammals including mice, rats, sheep, pigs and monkeys that express mutant huntingtin and develop ... Medicine portal Dayalu P, Albin RL (February 2015). "Huntington disease: pathogenesis and treatment". Neurologic Clinics. 33 (1 ... Another strategy to reduce the level of mutant huntingtin is to increase the rate at which cells are able to clear it. As mHtt ... In its mutant (polyglutamine expanded) form, the protein is more prone to cleavage that creates shorter fragments containing ...

Experiments in mice also support the claim that CMM disorder is associated with genetic mutations in DCC. Kanga mice, lacking ... This mutant DNAL4 protein, in turn, could lead to faulty cross-hemisphere wiring, resulting in CMM. RAD51 maintains genome ... However, the rarity of this neurologic disease, found in one in a million people, makes its societal and cultural significance ... These findings are corroborated by evidence from mice models, Kanga mice with a deletion of DCC, whose CST has been shown not ...

Most non-lethal mutants that have a non-wild type phenotype exhibit some activity, but significantly less than wild type. In C ... "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. Strauss WL, Kemper ... Cholinergic systems are implicated in numerous neurologic functions. Alteration in some cholinergic neurons may account for the ... Isolated temperature-sensitive mutants in Drosophila have all been lethal. Prior to death, affected flies show a change in ...

... although the mutant flies had a long circadian period while the mutant mice had a shorter period. The genetic differences ... Zhu, Lirong; Zee, Phyllis C. (2012). "Circadian Rhythm Sleep Disorders". Neurologic Clinics. 30 (4): 1167-1191. doi:10.1016/j. ... These mice had a circadian period almost 2 hours shorter than wild-type animals under constant darkness. Genetic dosage studies ... Sequencing of the hPer2 gene ('h' denoting a human strain, as opposed to Drosophila or mouse strains) revealed a serine-to- ...

... and in mouse ADPKD models, and ADPKD-prone mice lacking NEDD9 developed a more severe form of ADPKD than those with normal ... Overexpression of the deacetylation mimicking (9KR) mutant of CTTN is sufficient to restore actin dynamics at the leading edge ... contributing into recovery of neurologic function after cerebral ischemia. Nedd9 has recently been implicated in the ... Transgenic mice with homozygous depletion of NEDD9 are vital and fertile, but have immunological abnormalities that result in ...

Mouse models established that neoantigens were the targets of T cells activated by checkpoint blockade therapy and that ... Somatic cancer mutations can produce "nonself" tumor-specific mutant antigens (neoantigens). Sequencing and epitope prediction ... Individual cases of severe neurologic disorders following ipilimumab have been observed, including acute inflammatory ... Antibody-treated mice showed significantly less cancer growth than the controls. Bluestone and Linsley separately studied the ...

For example, mutants with fewer acetylcholine receptors may paralyze slower than wild type. It has been studied as a method to ... An interesting side effect these reviewers reported in passing was "neurologic excitement". Later papers, from the Janssen ... mouse) is 22 mg/kg. Levamisole reversibly and uncompetitively inhibits most isoforms of alkaline phosphatase (e.g., human liver ...

"Isaacs Syndrome - Neurologic Disorders". Merck Manuals Professional Edition. Retrieved 28 May 2023. Tyler, Frank H. (1966), ... Ghovanloo MR, Abdelsayed M, Peters CH, Ruben PC (2018). "A Mixed Periodic Paralysis & Myotonia Mutant, P1158S, Imparts pH- ... "Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy". The Journal ...

The mutant TREX1 protein is produced and mislocalized. Haploinsufficiency of TREX1 does not explain the disease, since the ... 2011: Approximately 20 families worldwide were identified as having RVCL 2012: Obtained mouse models for further research and ... Progressive neurologic deterioration unresponsive to systemic immunosuppression including corticosteroid therapy and ... results in vision loss and destructive brain lesions with neurologic deficits and death. Although brain and eye disease are ...

"Mouse model of Barth syndrome". SciBX. 3 (47): 1427. 9 December 2010. doi:10.1038/scibx.2010.1427. Soustek MS, Falk DJ, Mah CS ... This shows the limited neurologic involvement in BTHS, despite tafazzin's crucial roles in brain mitochondrial respiration and ... "The reconstituted ADP/ATP carrier activity has an absolute requirement for cardiolipin as shown in cysteine mutants". The ... "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "TAFAZZIN tafazzin ...

The Dawsons have also been at the forefront of research into the biology and pathobiology of the proteins and mutant proteins ... Variants in Thorase were found to be linked to schizophrenia and expression of these variants in mice lead to behavioral ... PD and are providing novel opportunities for therapies aimed at preventing the degenerative process of PD and other neurologic ... 1997). "Poly(ADP-ribose) polymerase gene disruption renders mice resistant to cerebral ischemia". Nat Med. 3 (10): 1089-95. doi ...

Neurologic examination should assess cognitive and mental abilities, cranial nerve function, motor function, deep tendon ... Parents of a proband The parents of an affected individual are obligate heterozygotes and therefore carry one mutant allele. ... These tests for example, using animals such as mice, RNAi, Behavioral assay, Electron microscopy, CT scan, or MRI demonstrate ... Offspring of a proband Offspring of a proband are obligate heterozygotes and will therefore carry one mutant allele. In ...

Knockout mice,mice, knockout MeSH B01.150.900.649.865.635.505.500.550.480 - mice, neurologic mutants MeSH B01.150.900.649. ... mice, inbred sencar MeSH B01.150.900.649.865.635.505.500.550 - mice, mutant strains MeSH B01.150.900.649.865.635.505.500. ... mice, inbred a MeSH B01.050.157.520.318 - mice, inbred akr MeSH B01.050.157.520.338 - mice, inbred balb c MeSH B01.050.157.520. ... mice, inbred a MeSH B01.050.199.520.520.318 - mice, inbred akr MeSH B01.050.199.520.520.338 - mice, inbred balb c MeSH B01.050. ...

Soriano P (1994). "Abnormal kidney development and hematological disorders in PDGF beta-receptor mutant mice". Genes & ... and brainstem in patients presenting with diverse neurologic (e.g. movement disorders, parkinsonism, seizures, headache) ... Mice harboring a single activated allele of PDGFRB show a number of postnatal phenotypes including reduced differentiation of ... "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. "PDGFRB platelet ...

Mammalian cells with mutant ERCC1-XPF are moderately more sensitive than normal cells to agents (such as ionizing radiation) ... Genetically engineered mice with disabling mutations in ERCC4 also have defects in DNA repair, accompanied by metabolic stress- ... These patients have characteristics of XP and CS, as well as additional neurologic, hepatobiliary, musculoskeletal and ... "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. Friedberg EC, ...

"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. Ryan SG, Sherman SL ... Mutations in the gene have been associated with hyperekplexia, a neurologic syndrome associated with an exaggerated startle ... "Decreased agonist affinity and chloride conductance of mutant glycine receptors associated with human hereditary hyperekplexia ... "A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse". Nat. ...

CMT2D mice have fewer proprioceptive and mechanosensitive neurons, but have more nociceptive neurons, possibly due to mutant ... Soykan I, McCallum RW (January 1997). "Gastrointestinal involvement in neurologic disorders: Stiff-man and Charcot-Marie-Tooth ... because Nrp1 binds to mutant GlyRS in mutant GARS1-CMT2D individuals, Nrp1 expression is reduced, in turn worsening motor ... Mice with deficient VEGF demonstrate motor-neuron disease over time. Thus, the VEGF/Nrp1 pathway is considered to be targetable ...

Human PEX6 can genetically complement plant pex6 mutants, which highlights functional conservation. Work with pex6 mutants in ... "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine. Yahraus T, ... "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal ... Zolman BK, Bartel B (February 2004). "An Arabidopsis indole-3-butyric acid-response mutant defective in PEROXIN6, an apparent ...

In 2009, a mouse model was made for FFI. These mice expressed a humanized version of the PrP protein that also contains the ... FFI is also invariably linked to the presence of the methionine codon at position 129 of the mutant allele, whereas fCJD is ... "Fatal Insomnia - Neurologic Disorders". Reference, Genetics Home h. "PRNP gene". Genetics Home Reference. Retrieved 22 March ... These mice appear to have progressively fewer and shorter periods of uninterrupted sleep, damage in the thalamus, and early ...

When the WAVE-1 gene was disrupted in mice, it resulted in cognitive defects such as losses in learning and memory implicating ... Overexpression of an N-cadherin mutant incapable of adhesion prevents spine head expansion, demonstrating N-cadherin's ... Yagi, T; Takeichi, M (15 May 2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". ... "Loss of WAVE-1 causes sensorimotor retardation and reduced learning and memory in mice". Proceedings of the National Academy of ...

Accelerated aging in the mutant involves various organs. Ercc1 mutant mice are deficient in several DNA repair processes ... COFS syndrome is a rare recessive disorder in which affected individuals undergo rapid neurologic decline and indications of ... Dietary restriction extended the lifespan of the Ercc1 mutant mice from 10 to 35 weeks for males and from 13 to 39 weeks for ... It appears that in Ercc1 mutant mice dietary restriction while delaying aging also attenuates accumulation of genome-wide DNA ...

Reader TA, Strazielle C, Botez MI, Lalonde R (March 1998). "Brain dopamine and amino acid concentrations in Lurcher mutant mice ... These articles demonstrated the use of B vitamins in the treatment of neurologic symptoms. In the 1980s, Botez pioneered ... and mice with spontaneous mutations causing cerebellar damage, such as GRID2-Lc Lurcher. These articles demonstrated the role ... as well as concentrations and receptor density of these neurotransmitters and glutamic acid in mouse brain, he and his co- ...

"Herpes Virus Mutant Points Towards New Vaccine Strategy". 18 December 2017. Halford WP, Püschel R, Gershburg E, Wilber A, ... The establishment of latency is prevented in animal models such as mice, guinea pig, and rhesus monkeys. The R2 non-invasive ... "Viruses in Horses with Neurologic and Respiratory Diseases". Viruses. 11 (10): 942. doi:10.3390/v11100942. ISSN 1999-4915. PMC ... The technique appears to be effective in experiments with mice and rabbits, but further research is required before it can be ...