“…ZEB1-AS1, SNHG16, and ALMS1-IT1 were expressed at higher levels in tumor samples than those in the corresponding paracancerous samples (p < 0.05), whereas SATB2-AS1 was upregulated in the paracancerous samples (p < 0.05). …”
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“…Seven patients harbored a mutation in six LCA candidate genes, including RPE65, LCA5 (n = 2), CRX, PRPH2, CEP290, and ALMS1, while two patients possess a mutation in IFT80 and RP1, known to cause other diseases. …”
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“…AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. …”
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“…Some of the discriminatory practices that constitute the main focus of the paper are the trafficking and killing of people with mental illness, oculocutaneous albinism and angular kyphosis, raping of women with mental illness and the employment of children with disabilities for alms-begging. RESULTS: The examination of these practices lends some significant weight and substance to the social model of disability, which construes disability in the context of oppression and the failure of social environments and structures to adjust to the needs and aspirations of people with disabilities. …”
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“…The bulk of that financial support comes from donors’ private donations in the form of obligatory and voluntary alms (zakāt and sadaqa). By taking a close look at three offices—the donation, intake, and disbursement office—I untangle the regime of care that shapes the daily transactions at this Islamic charity organization. …”
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“…Confirmation of significant mutations in the ALMS1 gene should lead to advice to screen the subject for cardiomyopathy, and metabolic disorders.…”
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“…A complete system which can predict epileptic seizures with high accuracy has been implemented on an ALTERA Cyclone V FPGA using 3931 ALMs which constitutes about 7% of the Cyclone V A7 capacity. …”
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“…Mutation screening of candidates genes revealed a pathogenic mutation in ALMS1 gene (c. 8441C > A, p.S2814*). Two novel mutations causing phenotypic LCA and Alström syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies…”
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“…The mutations include four alleles of three genes linked to human nonsyndromic ocular diseases (Aipl1(tvrm119), Aipl1(tvrm127), Rpgrip1(tvrm111), Rho(Tvrm334)) and three alleles of genes associated with human syndromic diseases that exhibit ocular phentoypes (Alms1(tvrm102), Clcn2(nmf289), Fkrp(tvrm53)). Phenotypic characterization of each model is provided in the context of existing literature, in some cases refining our current understanding of specific disease attributes. …”
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“…In prior work, we reported de novo mutations in TNNT2 and RRAGC and compound heterozygous mutations in ALMS1 and TAF1A among four cases in our cohort. Here, de novo mutations in established DCM genes—RBM20, LMNA, TNNT2, and PRDM16—were identified among five additional cases. …”
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“…Some forms of sharing, such as sharecropping or alms-giving, proceed from and sustain asymmetrical relations to the means of life. …”
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“…INTRODUCTION: Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characterized by a progressive degeneration of sensory functions, resulting in visual and audiological impairment, as well as metabolic disturbances such as childhood obesity, hyperinsulinemia, and diabetes mellitus type 2. …”
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“…Genetic testing revealed a mutation in the ALMS1 gene. The patient was then started on insulin sensitizers with a tapering of insulin with good response. …”
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“…Two of the touch neurons, the ALM neurons, are generated in the anterior of the animal and then migrate to near the middle of the animal. …”
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“…Six new variants are discovered in heterozygous carriers: four missense (genes ALMS1-NM_015120.4:c.5552C>T; SORCS1-NM_001013031.2:c.1072A>G and NM_001013031.2: c.2491A>C; TMEM67-NM_153704.5:c.158A>G) and two synonymous (genes BBS1-NM_024649.4:c.1437C>T; TMEM67-NM_153704.5:c.2583T>C). …”
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“…For instance, despite having functional limitations, older women in the community would engage in physically demanding tasks such as going into the bushes to cut and gather firewood to sell, as well as engaging in other forms of petty trading, while others resorted to begging for alms for sustenance. This pilot study highlights the experience of poverty among older women and the need for more structural interventions for older persons in Nigeria.…”
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“…Screening of nine affected families revealed two novel (c.5571_5576delinsCTAGATand c.471dup in EYS and SPATA7 genes, respectively) and six reported pathogenic mutations (c.304C>A, c.187C>T, c.1560C>A, c.547C>T, c.109del and c.9911_11550del in PDE6A, USH2A, USH2A, NMNAT1, PAX6 and ALMS1 genes, respectively) segregating with disease phenotype in each respective family. …”
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“…The eight variants that failed conversion were identified in the ALMS, TTN, CFTR, SLCO, LDLR, PCNT, MID1, and GRIA3 genes, and all the variants were not in the VCF files aligned to GRCh37. …”
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“…Our strategy, based on first applying several filters to ciliary variants and using many of the bioinformatics tools available, allowed us to identify causal mutations in BBS2, ALMS1 and CRB1 genes in four families, thus confirming the molecular diagnosis of ciliopathy. …”
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“…As a result, a 4-lncRNA (ALMS1-IT1, RP11-359J14.2, CTB-178M22.2 and RP11-347C18.5) based risk model was identified and patients in the high-risk group were revealed to have a lower survival rate than patients in the low-risk group. …”
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