Mutation, Missense

Publication Title: 
Molecular Biology of the Cell

Short, repetitive, G-rich telomeric sequences are synthesized by telomerase, a ribonucleoprotein consisting of telomerase reverse transcriptase (TERT) and an integrally associated RNA. Human TERT (hTERT) can repetitively reverse transcribe its RNA template, acting processively to add multiple telomeric repeats onto the same substrate. We investigated whether certain threshold levels of telomerase activity and processivity are required to maintain telomere function and immortalize human cells with limited lifespan.

D'Souza, Yasmin
Chu, Tsz Wai
Autexier, Chantal
Publication Title: 
Neuromolecular Medicine

A common cause of amyotrophic lateral sclerosis is mutations in superoxide dismutase-1, which provoke the disease by an unknown mechanism. We have previously found that soluble hydrophobic misfolded mutant human superoxide dismutase-1 species are enriched in the vulnerable spinal cords of transgenic model mice. The levels were broadly inversely correlated with life spans, suggesting involvement in the pathogenesis.

Zetterstrˆm, Per
Graffmo, Karin S.
Andersen, Peter M.
Br‰nnstrˆm, Thomas
Marklund, Stefan L.
Publication Title: 
Ophthalmic Genetics

PURPOSE: To describe the phenotypic variability in a Polish Norrie disease (ND) family associated with the missense mutation A63D. METHODS: A patient with spared vision from a Polish ND family underwent detailed ophthalmological examinations including slit-lamp biomicroscopy, ultrasound (USG), angiography, Goldmann kinetic visual field, and electroretinography (ERG). Mutation screening was carried out using the single-strand conformation polymorphism (SSCP) technique and subsequent DNA sequencing of the coding part of the ND gene.

Zaremba, J.
Feil, S.
Juszko, J.
Myga, W.
van Duijnhoven, G.
Berger, W.
Publication Title: 
Clinical Endocrinology

OBJECTIVE: The pathogenesis of idiopathic hypogonadotrophic hypogonadism (IHH) is mostly unclear. We characterized the clinical findings and molecular analysis of GnRHR and KAL1 genes in 26 Brazilian males with IHH with and without hyposmia/anosmia. Design Clinical assessment was performed for endocrine status, olfactory structure and function, renal lesion, and mirror movement. The diagnosis of Kallmann syndrome (KS) included HH and the clinical complaint of hyposmia/anosmia or decreased olfactory acuity obtained by the Smell Identification Test (SIT).

Versiani, Beatriz R.
Trarbach, Ericka
Koenigkam-Santos, Marcel
Dos Santos, Antonio Carlos
Elias, Lucila L. K.
Moreira, Ayrton C.
Latronico, Ana Claudia
de Castro, Margaret
Publication Title: 
International Journal of Molecular Sciences

Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis.

Yoo, Hee Jeong
Kim, Kyung
Kim, In Hyang
Rho, Seong-Hwan
Park, Jong-Eun
Lee, Ki Young
Kim, Soon Ae
Choi, Byung Yoon
Kim, Namshin
Publication Title: 
Proceedings of the National Academy of Sciences of the United States of America

Recent studies have identified impairments in neural induction and in striatal and cortical neurogenesis in Huntington's disease (HD) knock-in mouse models and associated embryonic stem cell lines. However, the potential role of these developmental alterations for HD pathogenesis and progression is currently unknown. To address this issue, we used BACHD:CAG-Cre(ERT2) mice, which carry mutant huntingtin (mHtt) modified to harbor a floxed exon 1 containing the pathogenic polyglutamine expansion (Q97).

Molero, Aldrin E.
Arteaga-Bracho, Eduardo E.
Chen, Christopher H.
Gulinello, Maria
Winchester, Michael L.
Pichamoorthy, Nandini
Gokhan, Solen
Khodakhah, Kamran
Mehler, Mark F.
Publication Title: 
Malaria Journal

BACKGROUND: In Zambia the first-line treatment for uncomplicated malaria is artemisinin combination therapy (ACT), with artemether-lumefantrine currently being used. However, the antifolate regimen, sulphadoxine-pyrimethamine (SP), remains the treatment of choice in children weighing less than 5 kg and also in expectant mothers. SP is also the choice drug for intermittent preventive therapy in pregnancy and serves as stand-by treatment during ACT stock outs.

Mkulama, Mtawa A. P.
Chishimba, Sandra
Sikalima, Jay
Rouse, Petrica
Thuma, Philip E.
Mharakurwa, Sungano
Publication Title: 
Acta Tropica

We genotyped 160 P. falciparum infections from Malawi for pfmdr-1 copy number changes and SNPs associated with in vivo tolerance and poor in vitro sensitivity to the component drugs of Coartem. We also measured in vitro susceptibility of 49 of these isolates to a variety of drugs in clinical use or with a potential for use in Africa. All 160 infections carried a single copy of pfmdr-1 but 34% exhibited sequence variation at 4 of the 5 polymorphic sites in pfmdr-1.

Nkhoma, Standwell
Nair, Shalini
Mukaka, Mavuto
Molyneux, Malcolm E.
Ward, Stephen A.
Anderson, Timothy J. C.
Publication Title: 
PloS One

Artemisinin, a thapsigargin-like sesquiterpene has been shown to inhibit the Plasmodium falciparum sarco/endoplasmic reticulum calcium-ATPase PfSERCA. To collect baseline pfserca sequence information before field deployment of Artemisinin-based Combination therapies that may select mutant parasites, we conducted a sequence analysis of 100 isolates from multiple sites in Africa, Asia and South America. Coding sequence diversity was large, with 29 mutated codons, including 32 SNPs (average of one SNP/115 bp), of which 19 were novel mutations.

Jambou, Ronan
Martinelli, Axel
Pinto, João
Gribaldo, Simonetta
Legrand, Eric
Niang, Makhtar
Kim, Nimol
Pharath, Lim
Volnay, Béatrice
Ekala, Marie Therese
Bouchier, Christiane
Fandeur, Thierry
Berzosa, Pedro
Benito, Agustín
Ferreira, Isabel Dinis
Ferreira, Cynthia
Vieira, Pedro Paulo
Alecrim, Maria das Graças
Mercereau-Puijalon, Odile
Cravo, Pedro
Publication Title: 
International journal of infectious diseases: IJID: official publication of the International Society for Infectious Diseases

OBJECTIVE: The objective of this study was to determine the frequency of dhfr and dhps resistance-associated haplotypes in Plasmodium falciparum isolates, three years after the introduction of sulfadoxine-pyrimethamine (SP) as the first-line antimalarial treatment in Iran. METHODS: Blood samples (N=182) were collected from patients presenting with falciparum malaria from southeastern Iran, and analyzed by nested-PCR/restriction fragment length polymorphism, followed by sequencing analysis.

Zakeri, Sedigheh
Farahani, Maryam Shahrabi
Afsharpad, Mandana
Salehi, Masoud
Raeisi, Ahmad
Djadid, Navid Dinparast


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