E. Jaakkola

Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

Jonathan Baets, Gian Maria Fabrizi, E. Jaakkola, Dagmara Kabzińska et autres

OBJECTIVE: Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT) neuropathy; however, in rare instances, they also lead to autosomal dominant Charcot-Marie-Tooth (ADCMT). We aimed to investigate the frequency of disease-causing heterozygous GDAP1 mutations in ADCMT and …

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The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease

Johane M. Robitaille, B. Zheng, Karin Wallace, M Beis et autres

AIM: The aim of this study is to assess the role of Frizzled-4 (FZD4) in familial exudative vitreoretinopathy (FEVR) and Coats disease. METHODS: Tissue samples were collected for DNA extraction and automated DNA sequencing of the two coding exons of FZD4 in …

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Array CGH in molecular diagnosis of mental retardation—A study of 150 Finnish patients

Linda Siggberg, Sirpa Ala‐Mello, E. Jaakkola, Esa Kuusinen et autres

We report on the results of an array comparative genomic hybridization (array CGH) study of 150 karyotypically normal Finnish patients with idiopathic mental retardation and/or dysmorphic features and/or malformations. Using high-resolution microarray analysis, we sought to identify clinically relevant microdeletions and microduplications …

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ERCC6 founder mutation identified in Finnish patients with COFS syndrome

E. Jaakkola, Aki Mustonen, Päivi Olsén, S. Miettinen et autres

Cerebro-oculo-facio-skeletal (COFS) syndrome is an autosomal recessive disorder characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. We report a large consanguineous pedigree from northern Finland with six individuals belonging into four different sibships and affected …

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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake et autres

During the preparation of

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis, Christopher J. Westlake et autres

The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most frequent genetic cause of terminal renal failure in the first 3 decades of life. Ten causative genes (NPHP1-NPHP9 and NPHP11), whose products localize to the primary cilia-centrosome complex, support the unifying concept …

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An investigation of wiki as a company’s communication and knowledge management tool

E. Jaakkola

Wiki is a social media channel. It is an information storage site, which can be edited by anyone. The main idea in wiki is that it uses peoples’ knowledge to create the content. In companies internal communication wiki has restricted access due …

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (vol 120, pg 791, 2010)

JF O'Toole, Yujuan Liu, Erica E. Davis, CJ Westlake et autres

Calvarial doughnut lesions and osteoporosis: A new three‐generation family and review

E. Jaakkola, Christine Lainé, Mervi K Mäyränpää, Aura Falck et autres

Familial calvarial doughnut lesions (CDLs; OMIM 126550) is a rare autosomal dominant low bone density disorder characterized by distinctive X-ray translucencies of the skull, multiple fractures, elevated serum alkaline phosphatase, and dental caries. Only three families comprising 22 cases and 29 sporadic …

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Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis

E. Jaakkola, I. Herzberg, Kari Laiho, Martin Barnardo et autres

Objective: To determine the influence of HLA-B27 homozygosity and HLA-DRB1 alleles in the susceptibility to, and severity of, ankylosing spondylitis in a Finnish population. Methods: 673 individuals from 261 families with ankylosing spondylitis were genotyped for HLA-DRB1 alleles and HLA-B27 heterozygosity/ homozygosity. …

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CD14 variants in Finnish families with ankylosing spondylitis

J.P. Pointon, E. Jaakkola, O Beynon, David Harvey et autres

OUTLOOK FOR WORLD TRADE, ECONOMIC GROWTH, GLOBALISATION, AND THE RESULTING FREIGHT FLOWS, ESPECIALLY BETWEEN THE EUROPEAN UNION AND RUSSIA

K Lautso, P Venaelaeinen, H Lehto, E. Jaakkola et autres

This work examines the development of economic growth in the main economic agglomerations of the world; their current and future import and export volumes and the resulting new distribution of freight flows between the economic regions. A more detailed analysis is made …