Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 135 for “"autosomal recessive"”.
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Molecular genetic investigation of autosomal recessive neurodevelopmental disorders
… basis and defined the clinical features of three autosomal recessive neurological syndromes. I studied a cohort of children with early onset epileptic encephalopathy and, in one family, identified a novel homozygous pathogenic mutation of PLCB1. I have also utilised autozygosity mapping techniques …
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Autosomal recessive hearing impairment. Hearing of & listening to patients
Contains fulltext : 156495.pdf (Publisher’s version ) (Open Access)
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The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD)
The main gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD) is PKHD1 which encodes a ciliary protein associated with planar cell polarity. In mice, mutations in the transcription factor Atmin can present with an ARPKD-like phenotype with kidney disease similar to an early …
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An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD)
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that manifests with bilaterally enlarged, cystic kidneys, hepatic fibrosis and pulmonary hypoplasia, with death reported in around 30 – 50% of affected neonates. Mutations in PKHD1 and DZIP1L have been identified as …
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The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa
… community where inheritance is typically autosomal dominant, arising predominantly from abnormal structure and thus function of the LDL receptor (LDLr). Defects in LDLr binding domain of apolipopreteinB-100 (apoB-100) are rarely encountered and are know as Familial defective apoB-100 …
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Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing
… non-syndromic (NS). The mode of inheritance is recessive in nearly 77% of non-syndromic HL. Up to date, more than 100 genes have been associated with HL harbouring more than 1000 causative variants. In many populations of European and Asian descent, pathogenic variants in GJB2 (connexin gene 26) …
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Dental implications of inherited connective tissue disorders in South Africa
… is of paramount importance. Although worldwide, autosomal recessive(AR) OI is rare, it had emerged that the frequency of OI III is relatively high in the indigenous Black African population of South Africa. A review of the literature revealed a paucity of information regarding the dental and …
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A novel compound heterozygous NEB mutationin Korean patients with intellectual disability, epilepsy,and acongenital myopathy
… one candidate variant pair corresponding to an autosomal recessive genetic model. The two affected siblings had the same compound hetero zygous mutation in the NEB gene encoding nebulin, which was composed of two different novel missense mutations: c.2603T>C (p.L868P)in exon 27 and c.21340C>T …
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The molecular investigation of Stargardt disease in South Africa
… gene is the only gene implicated in the autosomal recessive (ar) form of the STGD phenotype, while one genetic locus and one gene have been shown to be causative of the autosomal dominant form.
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Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations
… of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner. To date the only gene found to be involved with the autosomal recessive form is ABCA4. Mutations in this gene are associated not only with STGD, but with other autosomal recessive retinal diseases. …
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Factors That Impact Uptake of Carrier Screening By Male Reproductive Partners of Female Prenatal Patients
… used to identify individuals who are carriers of autosomal recessive conditions. Despite published recommendations, the majority of male partners do not complete carrier screening after their female partner is identified to be a carrier. Previous studieshave examined reasons why women elect or …
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SYNTHESIS, CHARACTERIZATION, IN VITRO EVALUTION, AND PRECLINICAL PROFILING OF β-CYCLODEXTRIN POLYROTAXANE FAMILIES FOR USE AS POTENTIAL NIEMANN-PICK TYPE C THERAPEUTICS
Niemann-Pick Disease Type C (NPC) is a rare, autosomal recessive genetic disorder featuring a loss of proteins responsible for unesterified cholesterol (UC) trafficking through the late endosomes/lysosomes (LE/LY) of every cell of the body. Disruption of this pathway leads to abnormal accumulation …
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An investigation into morphological and biochemical abnormalities in the central nervous system of the mutant mouse tottering
The mutant mouse tottering carries an autosomal recessive single gene mutation on chromosome 8 that produces three distinct neurological disorders shortly before weaning: petit mal or absence-like seizures, ataxia and intermittent movement disorders. The majority of the research on the mutant mouse …
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Characterisation of cysteamine prodrugs for the treatment of cystinosis and evaluation of liquid fill technology.
Cystinosis is a rare, autosomal, recessive disease characterised by raised levels of the amino acid cystine in the cells of most organs in the body which can cause organ damage. The treatment involves the oral administration of the aminothiol, cysteamine (Cystagon(TM)), but this has an offensive …
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A candidate gene analysis of arrhythmogenic right ventricular cardiomyopathy (ARVC)
… in 30 to 50% of cases and it is inherited in an autosomal dominant or an autosomal recessive manner. Twelve chromosomal loci have been linked to ARVC and six genes have been identified. In 2004 Asano and colleagues reported a mouse model of ARVC that established LAMRI and CBX5 as candidate genes …
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Occurrence, etiology and management of ringwomb in ewes
… concludes that the service sire introduced an autosomal recessive gene into the ewe flock and that the phenotype was not displayed until the carrier daughters were serviced by another carrier.
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ANALYSIS OF AXONAL TRANSPORT DEFECTS IN A ZEBRAFISH MODEL FOR SPINAL MUSCULAR ATROPHY
Spinal muscular atrophy (SMA) is an autosomal recessive hereditary neurodegenerative disease caused by a deficiency of the survival motor neuron (SMN) protein. It is characterised by the progressive loss of α-motor neurons (MNs), leading to muscle weakness, atrophy, and in the worst cases death. …
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The psychological impact of carrier status in hereditary disorders
… on self-concept. However, rather than examine autosomal recessive illnesses, wherein genetic responsibility is shared by both parents, the present study samples women at risk of being sole carriers of an X-linked hereditary disorder, Duchenne muscular dystrophy. Previous research most often …
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Identifying modifier genes in SMA model mice
… in SMN1 (Motor Neuron 1) mainly causes SMA (Autosomal recessive inheritance). SMN1 gene mutations lead to a shortage of the SMN protein and SMN protein forms SMN complex which take part in snRNP biogenesis and pre-mRNA splicing. Without SMN protein, motor neurons die, and nerve impulses are …
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