Juha Kere

IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease (2009)

Einarsdottir, Elisabet, Koskinen, Lotta LE, Dukes, Emma, Kainu, Kati, Suomela, Sari, Lappalainen, Maarit, ...

Abstract Background Association of the interleukin-23 receptor ( IL23R ) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis,...

Association study of the IL18RAP locus in three European populations with coeliac disease (2009)

Koskinen, Lotta L.E., Einarsdottir, Elisabet, Dukes, Emma, Heap, Graham A. R., Dubois, Patrick, Korponay-Szabo, Ilma R., ...

Coeliac disease is caused by dietary gluten, triggering a chronic inflammation of the small intestine in genetically predisposed individuals. Recently, a risk locus on chromosome 2q11–q12,...

Functional interaction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia (2009)

Massinen, Satu, Tammimies, Kristiina, Tapia-Páez, Isabel, Matsson, Hans, Hokkanen, Marie-Estelle, Söderberg, Ola, ...

Dyslexia, or specific reading disability, is the unexpected failure in learning to read and write when intelligence and senses are normal. One of the susceptibility genes, DYX1C1, has been implicated...

The Effects of the ACE Gene Insertion/Deletion Polymorphism on Glucose Tolerance and Insulin Secretion in Elderly People Are Modified by Birth Weight (2008)

Eero Kajantie, Anna Rautanen, Juha Kere, Sture Andersson, Hilkka Ylihärsilä, Clive Osmond, ...

The I allele of an insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme gene (ACE) appears to be protective against the complications of type 2 diabetes. Low birth weight, a...

Population substructure in Finland and Sweden revealed by the use of spatial coordinates and a small number of unlinked autosomal SNPs (2008)

Hannelius, Ulf, Salmela, Elina, Lappalainen, Tuuli, Guillot, Gilles, Lindgren, Cecilia M, Von Döbeln, Ulrika, ...

Abstract Background Despite several thousands of years of close contacts, there are genetic differences between the neighbouring countries of Finland and Sweden. Within Finland, signs of an east-west...

Gene Mapping by Haplotype Pattern Mining Hannu T.T. Toivonen1 (2008)

Kari Vasko, Vesa Ollikainen, Petteri Sevon, Heikki Mannila, Juha Kere

Abstract Genetic markers are being increasingly utilized in genemapping. Discovery of associations between markers and patient phenotypes-- such as a disease status-- enablesthe identification of...

Biological and genetic interaction between Tenascin C and Neuropeptide S receptor 1 in allergic diseases (2008)

Orsmark-Pietras, Christina, Melén, Erik, Vendelin, Johanna, Bruce, Sara, Laitinen, Annika, Laitinen, Lauri A., ...

Neuropeptide S receptor 1 (NPSR1, GPRA 154, GPRA) has been verified as a susceptibility gene for asthma and related phenotypes. The ligand for NPSR1, Neuropeptide S (NPS), activates signalling...

The PSORS1 locus gene CCHCR1 affects keratinocyte proliferation in transgenic mice (2008)

Tiala, Inkeri, Wakkinen, Janica, Suomela, Sari, Puolakkainen, Pauli, Tammi, Raija, Forsberg, Sofi, ...

The CCHCR1 gene (Coiled-Coil α-Helical Rod protein 1) within the major psoriasis susceptibility locus PSORS1 is a plausible candidate gene for the risk effect. We have previously generated...

on IDEAL Article A Second-Generation Association Study of the 5q31 Cytokine Gene Cluster and the Interleukin-4 Receptor in Asthma (2007)

Kerstin Lindblad-toh, Petteri Sevon, John D. Rioux, Anu Villapakkam, Lauri A. Laitinen, ...

We have analyzed a dense set of single-nucleotide polymorphisms (SNPs) and microsatellites spanning the T-helper cytokine gene cluster (interleukins 3, 4, 5, 9, and 13, interferon regulatory...

Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells (2007)

Jiao, Hong, Kaminen-Ahola, Nina, Tapia-Paez, Isabel, Ullah, Mohammed S, Parton, Laura E, ...

Exercise-induced hyperinsulinism (EIHI) is a dominantly inherited hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load. We aimed to...

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer (2007)

Pylkäs, Katri, Tommiska, Johanna, Syrjäkoski, Kirsi, Kere, Juha, Gatei, Magtouf, Waddell, Nicola, ...

Biallelic mutations in the ataxia-telangiectasia mutated (ATM) gene result in ataxia-telangiectasia (A-T). Studies on A-T families have shown that obligate female carriers have increased risk of...

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia (2007)

Anthoni, Heidi, Zucchelli, Marco, Matsson, Hans, Müller-Myhsok, Bertram, Fransson, Ingegerd, Schumacher, Johannes, ...

DYX3, a locus for dyslexia, resides on chromosome 2p11-p15. We have refined its location on 2p12 to a 157 kb region in two rounds of linkage disequilibrium (LD) mapping in a set of Finnish families....

Regulation of the basolateral chloride/base exchangers AE1 and SLC26A7 in the kidney collecting duct in potassium depletion (2007)

Barone, Sharon, Amlal, Hassane, Kujala, Minna, Xu, Jie, Karet, Fiona, Blanchard, Ann, ...

In the present study, the effect of potassium depletion on the expression of acid-base transporters in the collecting duct was examined. Toward this end rats were fed a potassium-free diet for 3...

A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia (2007)

Anthoni, Heidi, Zucchelli, Marco, Matsson, Hans, Müller-Myhsok, Bertram, Fransson, Ingegerd, Schumacher, Johannes, ...

DYX3, a locus for dyslexia, resides on chromosome 2p11-p15. We have refined its location on 2p12 to a 157 kb region in two rounds of linkage disequilibrium mapping in a set of Finnish families. The...

Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer (2006)

Pylkäs, Katri, Tommiska, Johanna, Syrjäkoski, Kirsi, Kere, Juha, Gatei, Magtouf, Waddell, Nicola, ...

Biallelic mutations in the ATM gene result in ataxia-telangiectasia (A-T). Studies on A-T families have shown that obligate female carriers have increased risk of developing breast cancer. Here we...

Downstream target genes of the neuropeptide S-NPSR1 pathway (2006)

Vendelin, Johanna, Bruce, Sara, Holopainen, Päivi, Pulkkinen, Ville, Rytilä, Paula, Pirskanen, Asta, ...

The neuropeptide S (NPS)–NPS receptor 1 (NPSR1) pathway has recently been implicated in the pathogenesis of asthma. The purpose of this study was to identify downstream gene targets regulated by...

Neuropeptide S and G protein-coupled receptor 154 modulate macrophage immune responses (2006)

Pulkkinen, Ville, Majuri, Marja-Leena, Wang, Guoying, Holopainen, Päivi, Obase, Yasushi, Vendelin, Johanna, ...

G protein-coupled receptor 154 (GPR154) is a recently discovered asthma susceptibility gene upregulated in the airways of asthma patients. We previously observed increased pulmonary mRNA expression...

Downstream target genes of the Neuropeptide S--NPSR1 pathway (2006)

Vendelin, Johanna, Bruce, Sara, Holopainen, Päivi, Pulkkinen, Ville, Rytilä, Paula, Pirskanen, Asta, ...

The Neuropeptide S (NPS) - NPS Receptor 1 (NPSR1) pathway has recently been implicated in the pathogenesis of asthma. The purpose of this study was to identify downstream gene targets regulated by...

Neuropeptide S and G protein-coupled receptor 154 modulate macrophage immune responses (2006)

Pulkkinen, Ville, Majuri, Marja-Leena, Wang, Guoying, Holopainen, Päivi, Obase, Yasushi, Vendelin, Johanna, ...

G protein-coupled receptor 154 (GPR154) is a recently discovered asthma susceptibility gene upregulated in the airways of asthma patients. We previously observed increased pulmonary mRNA expression...

The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia (2005)

Katariina Hannula-Jouppi, Nina Kaminen-Ahola, Mikko Taipale, Ranja Eklund, Jaana Nopola-Hemmi, Helena Kääriäinen, ...

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on Chromosome...

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia (2005)

Katariina Hannula-Jouppi, Nina Kaminen-Ahola, Mikko Taipale, Ranja Eklund, Jaana Nopola-Hemmi, Helena Kääriäinen, ...

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on chromosome...

The effects of the ACE gene insertion/deletion polymorphism on glucose tolerance and insulin secretion in elderly people are modified by birth weight (2004)

Kajantie, Eero, Rautanen, Anna, Kere, Juha, Andersson, Sture, Yliharsila, Hilkka, Osmond, Clive, ...

The I allele of an insertion/deletion (I/D) polymorphism in the angiotensin-converting enzyme gene (ACE) appears to be protective against the complications of type 2 diabetes. Low birth weight, a...

Transgenic mouse models support HCR as an effector gene in the PSORS1 locus (2004)

Elomaa, Outi, Majuri, Inkeri, Suomela, Sari, Asumalahti, Kati, Jiao, Hong, Mirzaei, Zahra, ...

Genetic susceptibility for psoriasis is regulated to the greatest extent by the PSORS1 locus. Three psoriasis associated susceptibility alleles have been identified within it, namely HLACw6, HCR*WWCC...

Transgenic mouse models support HCR as an effector gene in the PSORS1 locus (2004)

Elomaa, Outi, Majuri, Inkeri, Suomela, Sari, Asumalahti, Kati, Jiao, Hong, Mirzaei, Zahra, ...

Genetic susceptibility for psoriasis is regulated to the greatest extent by the PSORS1 locus. Three psoriasis-associated susceptibility alleles have been identified within it, namely, HLACw6,...

Transgenic mouse models support HCR as an effector gene in the PSORS1 locus (2004)

Elomaa, Outi, Majuri, Inkeri, Suomela, Sari, Asumalahti, Kati, Jiao, Hong, Mirzaei, Zahra, ...

Genetic susceptibility for psoriasis is regulated to the greatest extent by the PSORS1 locus. Three psoriasis associated susceptibility alleles have been identified within it, namely HLACw6, HCR*WWCC...

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus (2002)

Asumalahti, Kati, Veal, Colin, Laitinen, Tarja, Suomela, Sari, Allen, Michael, Elomaa, Outi, ...

PSORS1, near HLA-C, is the major genetic determinant of psoriasis. We present genetic and structural evidence suggesting a major role for the HCR gene at the PSORS1 locus. Genotyping of 419 families...

intensity models and reversible jump MCMC (2002)

Marko Salmenkivi, Juha Kere, Heikki Mannila

The existence of whole genome sequences makes it possible to search for global structure in the genome. We consider modeling the occurrence frequencies of discrete patterns (such as starting points...

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus (2002)

Asumalahti, Kati, Veal, Colin, Laitinen, Tarja, Suomela, Sari, Allen, Michael, Elomaa, Outi, ...

PSORS1, near HLA-C, is the major genetic determinant of psoriasis. We present genetic and structural evidence suggesting a major role for the HCR gene at the PSORS1 locus. Genotyping of 419 families...

Genome segmentation using piecewise constant intensity models and reversible jump MCMC (2002)

Salmenkivi, Marko, Kere, Juha, Mannila, Heikki

The existence of whole genome sequences makes it possible to search for global structure in the genome. We consider modeling the occurrence frequencies of discrete patterns (such as starting points...

Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein (2001)

Elomaa, Outi, Pulkkinen, Kati, Hannelius, Ulf, Mikkola, Marja, Saarialho-Kere, Ulpu, Kere, Juha

Anhidrotic ectodermal dysplasia (EDA) is an X-linked disorder characterized by abnormal development of ectoderm and its appendices. The EDA gene encodes different isoforms of ectodysplasin, a...

Data mining applied to linkage disequilibrium mapping (2000)

Päivi Onkamo, Kari Vasko, Vesa Ollikainen, Petteri Sevon, Heikki Mannila, ...

We introduce a new method for linkage disequilibrium mapping: haplotype pattern mining (HPM). The method, inspired by data mining methods, is based on discovery of recurrent patterns. We define a...

A candidate gene for psoriasis near HLA-C, HCR (Pg8), is highly polymorphic with a disease-associated susceptibility allele (2000)

Asumalahti, Kati, Laitinen, Tarja, Itkonen-Vatjus, Raija, Lokki, Marja-Liisa, Suomela, Sari, Snellman, Erna, ...

A susceptibility gene for psoriasis, a chronic skin disorder, resides in chromosome 6p near the HLA-C locus. Sequencing of the region has allowed the identification of a new gene, HCR. We found that...

Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy (1999)

Salmikangas, Paula, Mykkänen, Olli-Matti, Grönholm, Mikaela, Heiska, Leena, Kere, Juha, Carpén, Olli

The striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is...

Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly (1994)

W.Scherer, Stephen, Poorka], Parvoneh, Massa, Hillary, Soder, Sylvia, Allen, Todd, Nunes, Mark, ...

Split hand/split foot (ectrodactyly; SHSF) Is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been...

Characterization of four human YAC libraries for clone size, chimerism and X chromosome sequence representation (1994)

Nagaraja, Ramaiah, Kere, Juha, MacMillan, Sandra, Masisi, Mochubeloa W.J., Johnson, Douglas, Molini, Barbara J., ...

Four collections of human X-specific YACs, derived from human cells containing supernumerary X chromosomes or from somatic cell hybrids containing only X human DNA were characterized. In each...

Haplotype analysis to determine the position of a mutation among closely linked DNA markers (1993)

Ramsay, Michele, Williamson, Robert, Estivill, Xavier, Wainwright, Brandon J., Ho, Meng-Falt, Halford, Stephanie, ...

Positional cloning involves first finding linkage between an inherited phenotype (such as a disease) and a DNA marker, followed by the use of a variety of physical and genetic mapping techniques to...

Refinement of human chromosome 7 map around the proalpha2(I)collagen gene by long-range restriction mapping (1991)

Kere, Juha, Tolvanen, Ritva, Donis-Keller, Helen, De La Chapelle, Albert

The physical proximity of the closely linked proalpha2(I)collagen (COL1A2) and erythropoietin (EPO) genes and five loci with no known function was studied by long-range restriction mapping...

Molecular abnormalities of chromosome 7 in myeloid disorders / (1989)

Kere, Juha.

Nimiösivulla myös: Department of Medical Genetics, University of Helsinki, Finland.

Chromosome 7 long arm deletion breakpoints in preleukemia: mapping by pulsed field gel electrophresis (1989)

Kere, Juha

Chromosome 7 long arm deletions (7q-) are recurring chromosome abnormalities in leukemic bone marrow cells. In four patients we have previously localized the breakpoints in band 7q22 between the...

Microsatellite diversity and the demographic history of modern humans

Jorde, Lynn B., Rogers, Alan R., Bamshad, Michael, Watkins, W. Scott, Krakowiak, Patrycja, Sung, Sandy, ...

We have examined differences in diversity at 60 microsatellite loci among human population samples from three major continental groups to evaluate the hypothesis of greater African diversity in this...

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

Srivastava, Anand K., Pispa, Johanna, Hartung, Andrew J., Du, Yangzhu, Ezer, Sini, Jenks, Ted, ...

Mouse Tabby (Ta) and X chromosome-linked human EDA share the features of hypoplastic hair, teeth, and eccrine sweat glands. We have cloned the Ta gene and find it to be homologous to the EDA gene....

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

Taipale, Mikko, Kaminen, Nina, Nopola-Hemmi, Jaana, Haltia, Tuomas, Myllyluoma, Birgitta, Lyytinen, Heikki, ...

Approximately 3–10% of people have specific difficulties in reading, despite adequate intelligence, education, and social environment. We report here the characterization of a gene, DYX1C1 near the...

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1

Huopio, Hanna, Reimann, Frank, Ashfield, Rebecca, Komulainen, Jorma, Lenko, Hanna-Liisa, Rahier, Jaques, ...

ATP-sensitive potassium channels play a major role in linking metabolic signals to the exocytosis of insulin in the pancreatic β cell. These channels consist of two types of protein subunit: the...

A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region

Hannula, Katariina, Lipsanen-Nyman, Marita, Kontiokari, Tero, Kere, Juha

Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in ∼10% of patients with Silver-Russell syndrome (SRS). It has been...

The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia

Hannula-Jouppi, Katariina, Kaminen-Ahola, Nina, Taipale, Mikko, Eklund, Ranja, Nopola-Hemmi, Jaana, Kääriäinen, Helena, ...

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on Chromosome...

Data Mining Applied to Linkage Disequilibrium Mapping

Toivonen, Hannu T. T., Onkamo, Päivi, Vasko, Kari, Ollikainen, Vesa, Sevon, Petteri, Mannila, Heikki, ...

We introduce a new method for linkage disequilibrium mapping: haplotype pattern mining (HPM). The method, inspired by data mining methods, is based on discovery of recurrent patterns. We define a...

Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2

Virolainen, Elina, Wessman, Maija, Hovatta, Iiris, Niemi, Kirsti-Maria, Ignatius, Jaakko, Kere, Juha, ...

Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with...

Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia

Schumacher, Johannes, Anthoni, Heidi, Dahdouh, Faten, König, Inke R., Hillmer, Axel M., Kluck, Nadine, ...

We searched for linkage disequilibrium (LD) in 137 triads with dyslexia, using markers that span the most-replicated dyslexia susceptibility region on 6p21-p22, and found association between the...

Microsatellite diversity and the demographic history of modern humans

Jorde, Lynn B., Rogers, Alan R., Bamshad, Michael, Watkins, W. Scott, Krakowiak, Patrycja, Sung, Sandy, ...

We have examined differences in diversity at 60 microsatellite loci among human population samples from three major continental groups to evaluate the hypothesis of greater African diversity in this...

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

Srivastava, Anand K., Pispa, Johanna, Hartung, Andrew J., Du, Yangzhu, Ezer, Sini, Jenks, Ted, ...

Mouse Tabby (Ta) and X chromosome-linked human EDA share the features of hypoplastic hair, teeth, and eccrine sweat glands. We have cloned the Ta gene and find it to be homologous to the EDA gene....

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain

Taipale, Mikko, Kaminen, Nina, Nopola-Hemmi, Jaana, Haltia, Tuomas, Myllyluoma, Birgitta, Lyytinen, Heikki, ...

Approximately 3–10% of people have specific difficulties in reading, despite adequate intelligence, education, and social environment. We report here the characterization of a gene, DYX1C1 near the...

Susceptibility Loci for Preeclampsia on Chromosomes 2p25 and 9p13 in Finnish Families

Laivuori, Hannele, Lahermo, Päivi, Ollikainen, Vesa, Widen, Elisabeth, Häivä-Mällinen, Leena, Sundström, Helena, ...

Preeclampsia is a common, pregnancy-specific disorder characterized by reduced placental perfusion, endothelial dysfunction, elevated blood pressure, and proteinuria. The pathogenesis of this...

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1

Huopio, Hanna, Reimann, Frank, Ashfield, Rebecca, Komulainen, Jorma, Lenko, Hanna-Liisa, Rahier, Jaques, ...

ATP-sensitive potassium channels play a major role in linking metabolic signals to the exocytosis of insulin in the pancreatic β cell. These channels consist of two types of protein subunit: the...

Polymorphisms in the Tyrosine Kinase 2 and Interferon Regulatory Factor 5 Genes Are Associated with Systemic Lupus Erythematosus

Sigurdsson, Snaevar, Nordmark, Gunnel, Göring, Harald H. H., Lindroos, Katarina, Wiman, Ann-Christin, Sturfelt, Gunnar, ...

Systemic lupus erythematosus (SLE) is a complex systemic autoimmune disease caused by both genetic and environmental factors. Genome scans in families with SLE point to multiple potential chromosomal...

A Narrow Segment of Maternal Uniparental Disomy of Chromosome 7q31-qter in Silver-Russell Syndrome Delimits a Candidate Gene Region

Hannula, Katariina, Lipsanen-Nyman, Marita, Kontiokari, Tero, Kere, Juha

Maternal uniparental disomy of chromosome 7 (matUPD7), the inheritance of both chromosomes from only the mother, is observed in ∼10% of patients with Silver-Russell syndrome (SRS). It has been...

The Axon Guidance Receptor Gene ROBO1 Is a Candidate Gene for Developmental Dyslexia

Hannula-Jouppi, Katariina, Kaminen-Ahola, Nina, Taipale, Mikko, Eklund, Ranja, Nopola-Hemmi, Jaana, Kääriäinen, Helena, ...

Dyslexia, or specific reading disability, is the most common learning disorder with a complex, partially genetic basis, but its biochemical mechanisms remain poorly understood. A locus on Chromosome...

Data Mining Applied to Linkage Disequilibrium Mapping

Toivonen, Hannu T. T., Onkamo, Päivi, Vasko, Kari, Ollikainen, Vesa, Sevon, Petteri, Mannila, Heikki, ...

We introduce a new method for linkage disequilibrium mapping: haplotype pattern mining (HPM). The method, inspired by data mining methods, is based on discovery of recurrent patterns. We define a...

Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2

Virolainen, Elina, Wessman, Maija, Hovatta, Iiris, Niemi, Kirsti-Maria, Ignatius, Jaakko, Kere, Juha, ...

Autosomal recessive congenital ichthyosis (ARCI) is a rare, clinically and genetically heterogeneous genodermatosis. One gene (transglutaminase 1, on 14q11) and one additional locus (on 2q33-35, with...

Strong Genetic Evidence of DCDC2 as a Susceptibility Gene for Dyslexia

Schumacher, Johannes, Anthoni, Heidi, Dahdouh, Faten, König, Inke R., Hillmer, Axel M., Kluck, Nadine, ...

We searched for linkage disequilibrium (LD) in 137 triads with dyslexia, using markers that span the most-replicated dyslexia susceptibility region on 6p21-p22, and found association between the...

ELMOD2 Is a Candidate Gene for Familial Idiopathic Pulmonary Fibrosis

Hodgson, Ulla, Pulkkinen, Ville, Dixon, Morag, Peyrard-Janvid, Myriam, Rehn, Marko, Lahermo, Päivi, ...

We performed a genomewide scan in six multiplex families with familial idiopathic pulmonary fibrosis (IPF) who originated from southeastern Finland. The majority of the Finnish multiplex families...

Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

Feuk, Lars, Kalervo, Aino, Lipsanen-Nyman, Marita, Skaug, Jennifer, Nakabayashi, Kazuhiko, Finucane, Brenda, ...

Mutations in FOXP2 cause developmental verbal dyspraxia (DVD), but only a few cases have been described. We characterize 13 patients with DVD—5 with hemizygous paternal deletions spanning the FOXP2...

Mapping and identifying genes for asthma and psoriasis

Kere, Juha

Susceptibility genes for complex diseases are characterized by reduced penetrance, caused by the influence of other genes, the environment or stochastic events. Recently, positional cloning efforts...

CCHCR1 Is Up-Regulated in Skin Cancer and Associated with EGFR Expression

Suomela, Sari, Elomaa, Outi, Skoog, Tiina, Ala-aho, Risto, Jeskanen, Leila, Pärssinen, Jenita, ...

Despite chronic inflammation, psoriatic lesions hardly ever progress to skin cancer. Aberrant function of the CCHCR1 gene (Coiled-Coil α-Helical Rod protein 1, HCR) within the PSORS1 locus may...

The complex of TFII-I, PARP1, and SFPQ proteins regulates the DYX1C1 gene implicated in neuronal migration and dyslexia

Tapia-Páez, Isabel, Tammimies, Kristiina, Massinen, Satu, Roy, Ananda L., Kere, Juha

DYX1C1 was first identified as a candidate gene for dyslexia susceptibility, and its role in controlling neuronal migration during embryogenesis and effect on learning in rodents have been verified....