Homozygous deletion
Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
... Mitochondrial disorders can present with a multisystem neuromuscular disorder or can affect only one organ system, such as skeletal muscle, where fatigue and subjective muscle weakness may be the only symptoms. Although ...
7
CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1
... Case presentation: The proband, a boy born at full-term to consanguineous parents from Mexico, presented at 35 months of age with microcephaly, abnormal brain MRI findings, underdeveloped right lung, almond-shaped eyes, ...
6
Case Report EXO1 homozygous deletion suppresses the hydroxyurea sensitivity in anaplastic meningioma with extracranial metastases
... EXO1 deletion was shown to suppress hydroxyurea hypersensitivi- ty in vitro ...EXO1 homozygous deletion including these 3 impor- tant domains, ...EXO1 homozygous deletion at exons 8 and ...
8
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
... Background: Hearing loss is the most common birth defect and the most prevalent sensorineural disorder in developed countries. More than 50% of prelingual deafness is genetic, most often autosomal recessive and ...
5
Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving DOCK8, KANK1, EHMT1 genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis
... with homozygous deletions of GLDC and CDK5RAP2 genes were discov- ered in this ...heterozygous deletion of different size from each carrier parent, which led to a homozygous deletion of GLDC ...
8
Original Article Early discovery of disseminated tumor cells during carcinogenesis in a 4NQO-induced mouse model of oral squamous cell carcinoma
... genetic deletion of these ...gous deletion of exons 5-8 of TP53 and exons 2, 6, and 7 of RB1CC1 due to limited DNA re- ...the homozygous deletion of RB1CC1 and TP53 occurred in bone marrow- ...
10
Glucose induced germ tube formation in Candida albicans : a thesis presented to Massey University in fulfilment of the requirements for a Masters of Science degree in Microbiology
... albicans strains carrying a homozygous deletion of orfl 9.1944 were unable to form germ tubes in response to embedded conditions Section 3.1.5; a phenotype shared by strains that carry a[r] ...
105
Decreased Meiotic Intergenic Recombination and Increased Meiosis I Nondisjunction in exo1 Mutants of Saccharomyces cerevisiae
... a homozygous deletion of EXO1 show decreased spore viability associated with an increase in meiosis I nondisjunction, while intergenic recombi- nation is reduced about ...
9
The Saccharomyces cerevisiae Ku Autoantigen Homologue Affects Radiosensitivity Only in the Absence of Homologous Recombination
... repair in yeast, we observed that a homozygous deletion of HDFl in a diploid yeast strain does not render cells sensitive to ionizing radiation or to MMS.. Sporulation and[r] ...
12
Genetic copy number variants in sib pairs both affected with schizophrenia
... the homozygous deletion of BU678720 cosegregated with schizophrenia in the two ...gous deletion of BU678720 and schizophrenia in a larger case-control ...of homozygous deletion of this ...
9
WHAT WE KNOW ABOUT THE MOLECULAR GENETICS OF CENTRAL NERVOUS SYSTEM (CNS) TUMOURS IN MALAYSIA
... The p16 gene is a tumour suppressor gene located at chromosome 9p21. It is also known as Major Tumor Suppressor 1 (MTS1), Inhibitor of Cyclin-dependent 4a (INK4a) and Cyclin-dependent Kinase Inhibitor 2a (CDKN2A) which ...
7
Variation in Copy Number of MTUS1 Gene among Healthy Individuals and Cancer Patients from Gujarat
... The distribution of MTUS1 allele and genotypes was assessed in 280 healthy Indian control individuals. The frequency for wt allele was 0.71 and that of Del allele was 0.29. The genotype frequency was found to be 49.2% ...
6
Haplotype Analysis of β-Thalassaemia Major and Carriers with Filipino β-Deletion in Sabah, Malaysia
... largest deletion seen among the reported β-thalassaemia ...This deletion was found to be 118 kb (8) or 116.4 kb (9) with the 5’ deletion breakpoint at the position -4279 relative to the mRNA capsite ...
9
MicroRNA Biogenesis and Hedgehog-Patched Signaling Cooperate to Regulate an Important Developmental Transition in Granule Cell Development
... and homozygous loss of Dicer1 dramatically decreases the latency of tumor-free survival in a genetically engineered mouse model of Ptch1-induced medulloblas- toma—different from that used by Zindy et ...only ...
16
Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction
... Results: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respira- tory failure at the age of 60. ...
9
Genetic subgroup of small ruminant lentiviruses that infects sheep homozygous for TMEM154 frameshift deletion mutation A4Δ53
... As part of a research surveillance program, a flock of ap- proximately 250 sheep at North Dakota State University was sampled for SRLV infection and TMEM154 diplotypes. The flock was comprised of multiple breeds ...
6
Functional genetic variant in the Kozak sequence of WW domain- containing oxidoreductase (WWOX) gene is associated with oral cancer risk
... In a previous study, rs11545028 was predicted to lie within the Kozak translation initiation site, which comprises 6−8 nucleotides surrounding the initiation codon [40]. Studies conducted on the optimal Kozak sequence at ...
13
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations
... The patient had a homozygous frameshift deletion in IFNGR2, which encodes the signal transducing chain of the IFN-γ receptor, that resulted in minimal protein expression and abolished do[r] ...
7
Fox transcription factors: from development to disease
... In mammals there are four FoxP genes (Foxp1-4), and the transcription factors that they encode have been shown to play a role in the development of multiple cell types, including cardiomyocytes (Wang et al., 2004), ...
13
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.pdf
... Fig. 1 Identification of mutations in three patients with CHS. a, Patient 1, a white male with typical childhood CHS, including oculocutaneous albinism (OCA), neutropenia, impaired platelet function, lack of NK cell ...
5