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  • 1.
    Ballantyne, Kaye N.
    et al.
    Erasmus MC University, Netherlands Victoria Police Forens Serv Department, Australia .
    Ralf, Arwin
    Erasmus MC University, Netherlands .
    Aboukhalid, Rachid
    Mohammed V Agdal University, Morocco .
    Achakzai, Niaz M.
    University of Punjab, Pakistan .
    Anjos, Maria J.
    National Institute Legal Medical and Forens Science IP, Portugal .
    Ayub, Qasim
    Wellcome Trust Sanger Institute, England .
    Balazic, Joze
    University of Ljubljana, Slovenia .
    Ballantyne, Jack
    University of Central Florida, FL 32816 USA University of Central Florida, FL 32816 USA .
    J. Ballard, David
    Kings Coll London, England .
    Berger, Burkhard
    Medical University of Innsbruck, Austria .
    Bobillo, Cecilia
    University of Buenos Aires, Argentina Consejo Nacl Invest Cient and Tecn, Argentina .
    Bouabdellah, Mehdi
    Mohammed V Agdal University, Morocco .
    Burri, Helen
    University of Zurich, Switzerland .
    Capal, Tomas
    Institute Criminalist Prague, Czech Republic .
    Caratti, Stefano
    University of Turin, Italy .
    Cardenas, Jorge
    University of Santiago de Compostela, Spain .
    Cartault, Francois
    Site Centre Hospital Felix Guyon, Reunion .
    F. Carvalho, Elizeu
    University of Estado Rio De Janeiro, Brazil .
    Carvalho, Monica
    National Institute Legal Medical and Forens Science IP, Portugal .
    Cheng, Baowen
    Yunnan Prov Department Public Secur, Peoples R China .
    D. Coble, Michael
    NIST, MD 20899 USA .
    Comas, David
    University of Pompeu Fabra, Spain .
    Corach, Daniel
    University of Buenos Aires, Argentina Consejo Nacl Invest Cient and Tecn, Argentina .
    E. DAmato, Maria
    University of Western Cape, South Africa .
    Davison, Sean
    University of Western Cape, South Africa .
    de Knijff, Peter
    Leiden University, Netherlands .
    Corazon A. De Ungria, Maria
    University of Philippines, Philippines .
    Decorte, Ronny
    Katholieke University of Leuven, Belgium .
    Dobosz, Tadeusz
    Wroclaw Medical University, Poland .
    M. Dupuy, Berit
    Norwegian Institute Public Heatlh, Norway .
    Elmrghni, Samir
    University of Benghazi, Libya .
    Gliwinski, Mateusz
    Medical University of Gdansk, Poland .
    C. Gomes, Sara
    University of Madeira, Portugal .
    Grol, Laurens
    Netherlands Forens Institute, Netherlands .
    Haas, Cordula
    University of Zurich, Switzerland .
    Hanson, Erin
    University of Central Florida, FL 32816 USA .
    Henke, Juergen
    Institute Blutgruppenforsch LGC GmbH, Germany .
    Henke, Lotte
    Institute Blutgruppenforsch LGC GmbH, Germany .
    Herrera-Rodriguez, Fabiola
    Poder Judicial, Costa Rica .
    R. Hill, Carolyn
    NIST, MD 20899 USA .
    Holmlund, Gunilla
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för mikrobiologi och molekylär medicin. Linköpings universitet, Hälsouniversitetet.
    Honda, Katsuya
    University of Tsukuba, Japan .
    Immel, Uta-Dorothee
    University of Halle Wittenberg, Germany .
    Inokuchi, Shota
    National Research Institute Police Science, Japan .
    A. Jobling, Mark
    University of Leicester, England .
    Kaddura, Mahmoud
    University of Benghazi, Libya .
    S. Kim, Jong
    Supreme Prosecutors Off, South Korea .
    H. Kim, Soon
    National Forens Serv, South Korea .
    Kim, Wook
    Dankook University, South Korea .
    E. King, Turi
    University of Leicester, England .
    Klausriegler, Eva
    Salzburg University, Austria .
    Kling, Daniel
    Norwegian Institute Public Heatlh, Norway .
    Kovacevic, Lejla
    Institute Genet Engn and Biotechnol, Bosnia and Herceg .
    Kovatsi, Leda
    Aristotle University of Thessaloniki, Greece .
    Krajewski, Pawel
    Medical University of Warsaw, Poland .
    Kravchenko, Sergey
    NASU, Ukraine .
    H. D. Larmuseau, Maarten
    Katholieke University of Leuven, Belgium .
    Young Lee, Eun
    Yonsei University, South Korea .
    Lessig, Ruediger
    University of Halle Wittenberg, Germany .
    A. Livshits, Ludmila
    NASU, Ukraine .
    Marjanovic, Damir
    Institute Genet Engn and Biotechnol, Bosnia and Herceg .
    Minarik, Marek
    Genomac Forens Institute, Czech Republic .
    Mizuno, Natsuko
    National Research Institute Police Science, Japan .
    Moreira, Helena
    University of Aveiro, Portugal .
    Morling, Niels
    University of Copenhagen, Denmark .
    Mukherjee, Meeta
    Govt India, India .
    Munier, Patrick
    Site Centre Hospital Felix Guyon, Reunion .
    Nagaraju, Javaregowda
    Centre DNA Fingerprinting and Diagnost, India .
    Neuhuber, Franz
    Salzburg University, Austria .
    Nie, Shengjie
    Kunming Medical University, Peoples R China .
    Nilasitsataporn, Premlaphat
    Royal Thai Police, Thailand .
    Nishi, Takeki
    University of Tsukuba, Japan .
    H. Oh, Hye
    Supreme Prosecutors Off, South Korea .
    Olofsson, Jill
    University of Copenhagen, Denmark .
    Onofri, Valerio
    University of Politecn Marche, Italy .
    U. Palo, Jukka
    University of Helsinki, Finland .
    Pamjav, Horolma
    Minist Public Adm and Justice, Hungary .
    Parson, Walther
    Medical University of Innsbruck, Austria Penn State University, PA 16802 USA .
    Petlach, Michal
    Genomac Forens Institute, Czech Republic .
    Phillips, Christopher
    University of Santiago de Compostela, Spain .
    Ploski, Rafal
    Medical University of Warsaw, Poland .
    P. R. Prasad, Samayamantri
    Centre DNA Fingerprinting and Diagnost, India .
    Primorac, Dragan
    Penn State University, PA 16802 USA University of New Haven, CT USA University of Split, Croatia University of Osijek, Croatia .
    A. Purnomo, Gludhug
    Eijkman Institute Molecular Biol, Indonesia .
    Purps, Josephine
    Charite, Germany .
    Rangel-Villalobos, Hector
    University of Guadalajara CUCienega UdeG, Mexico .
    Rebala, Krzysztof
    Medical University of Gdansk, Poland .
    Rerkamnuaychoke, Budsaba
    Mahidol University, Thailand .
    Rey Gonzalez, Danel
    University of Santiago de Compostela, Spain .
    Robino, Carlo
    University of Turin, Italy .
    Roewer, Lutz
    Charite, Germany .
    Rosa, Alexandra
    University of Madeira, Portugal University of Madeira, Portugal .
    Sajantila, Antti
    University of Helsinki, Finland University of N Texas, TX USA .
    Sala, Andrea
    University of Buenos Aires, Argentina Consejo Nacl Invest Cient and Tecn, Argentina .
    M. Salvador, Jazelyn
    University of Philippines, Philippines .
    Sanz, Paula
    University of Pompeu Fabra, Spain .
    Schmitt, Cornelia
    University of Cologne, Germany .
    K. Sharma, Anil
    Govt India, India .
    A. Silva, Dayse
    University of Estado Rio De Janeiro, Brazil .
    Shin, Kyoung-Jin
    Yonsei University, South Korea .
    Sijen, Titia
    Netherlands Forens Institute, Netherlands .
    Sirker, Miriam
    University of Cologne, Germany .
    Sivakova, Daniela
    Comenius University, Slovakia .
    Skaro, Vedrana
    Genos Ltd, Croatia .
    Solano-Matamoros, Carlos
    University of Costa Rica, Costa Rica .
    Souto, Luis
    University of Aveiro, Portugal .
    Stenzl, Vlastimil
    Institute Criminalist Prague, Czech Republic .
    Sudoyo, Herawati
    Eijkman Institute Molecular Biol, Indonesia .
    Syndercombe-Court, Denise
    Kings Coll London, England .
    Tagliabracci, Adriano
    University of Politecn Marche, Italy .
    Taylor, Duncan
    Forens Science South Australia, Australia Flinders University of S Australia, Australia .
    Tillmar, Andreas
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för mikrobiologi och molekylär medicin. Linköpings universitet, Hälsouniversitetet. Natl Board Forens Med, Dept Forens Genet and Forens Toxicol, Linkoping, Sweden .
    S. Tsybovsky, Iosif
    State Comm Forens Expertises, Byelarus .
    Tyler-Smith, Chris
    Wellcome Trust Sanger Institute, England .
    J. van der Gaag, Kristiaan
    Leiden University, Netherlands .
    Vanek, Daniel
    Forens DNA Serv, Czech Republic Charles University of Prague, Czech Republic .
    Volgyi, Antonia
    Minist Public Adm and Justice, Hungary .
    Ward, Denise
    Forens Science South Australia, Australia .
    Willemse, Patricia
    Leiden University, Netherlands .
    P. H. Yap, Eric
    DSO National Labs, Singapore .
    Y. Y. Yong, Rita
    DSO National Labs, Singapore .
    Zupanic Pajnic, Irena
    University of Ljubljana, Slovenia .
    Kayser, Manfred
    Erasmus MC University, Netherlands .
    Toward Male Individualization with Rapidly Mutating Y-Chromosomal Short Tandem Repeats2014Inngår i: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 35, nr 8, s. 1021-1032Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Relevant for various areas of human genetics, Y-chromosomal short tandem repeats (Y-STRs) are commonly used for testing close paternal relationships among individuals and populations, and for male lineage identification. However, even the widely used 17-loci Yfiler set cannot resolve individuals and populations completely. Here, 52 centers generated quality-controlled data of 13 rapidly mutating (RM) Y-STRs in 14,644 related and unrelated males from 111 worldwide populations. Strikingly, greater than99% of the 12,272 unrelated males were completely individualized. Haplotype diversity was extremely high (global: 0.9999985, regional: 0.99836-0.9999988). Haplotype sharing between populations was almost absent except for six (0.05%) of the 12,156 haplotypes. Haplotype sharing within populations was generally rare (0.8% nonunique haplotypes), significantly lower in urban (0.9%) than rural (2.1%) and highest in endogamous groups (14.3%). Analysis of molecular variance revealed 99.98% of variation within populations, 0.018% among populations within groups, and 0.002% among groups. Of the 2,372 newly and 156 previously typed male relative pairs, 29% were differentiated including 27% of the 2,378 father-son pairs. Relative to Yfiler, haplotype diversity was increased in 86% of the populations tested and overall male relative differentiation was raised by 23.5%. Our study demonstrates the value of RMY-STRs in identifying and separating unrelated and related males and provides a reference database.

  • 2.
    Concepcion Gil-Rodriguez, Maria
    et al.
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain.
    Deardorff, Matthew A.
    Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA.
    Ansari, Morad
    University of Edinburgh, Scotland.
    Tan, Christopher A.
    University of Chicago, IL 60637 USA.
    Parenti, Ilaria
    Medical University of Lubeck, Germany; University of Milan, Italy.
    Baquero-Montoya, Carolina
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Pablo Tobon Uribe, Colombia.
    Ousager, Lilian B.
    Odense University Hospital, Denmark.
    Puisac, Beatriz
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain.
    Hernandez-Marcos, Maria
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain.
    Esperanza Teresa-Rodrigo, Maria
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain.
    Marcos-Alcalde, Inigo
    Centre Biol Molecular Severo Ochoa CSIC UAM, Spain.
    Wesselink, Jan-Jaap
    Biomol Informat SL Campus UAM, Spain.
    Lusa-Bernal, Silvia
    Biomol Informat SL Campus UAM, Spain.
    Bijlsma, Emilia K.
    Leiden University, Netherlands.
    Braunholz, Diana
    Medical University of Lubeck, Germany.
    Bueno-Martinez, Ines
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Clin University of Lozano Blesa, Spain.
    Clark, Dinah
    Childrens Hospital Philadelphia, PA 19104 USA.
    Cooper, Nicola S.
    Birmingham Womens Hospital, England.
    Curry, Cynthia J.
    University of Calif San Francisco, CA USA.
    Fisher, Richard
    James Cook University, England.
    Fryer, Alan
    Liverpool Womens Hospital, England; Alder Hey Childrens Hospital, England.
    Ganesh, Jaya
    Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA.
    Gervasini, Cristina
    University of Milan, Italy.
    Gillessen-Kaesbach, Gabriele
    Medical University of Lubeck, Germany.
    Guo, Yiran
    Childrens Hospital Philadelphia, PA 19104 USA.
    Hakonarson, Hakon
    University of Penn, PA 19104 USA; Childrens Hospital Philadelphia, PA 19104 USA.
    Hopkin, Robert J.
    Cincinnati Childrens Hospital Medical Centre, OH 45229 USA.
    Kaur, Maninder
    Childrens Hospital Philadelphia, PA 19104 USA.
    Keating, Brendan J.
    University of Penn, PA 19104 USA; Childrens Hospital Philadelphia, PA 19104 USA.
    Kibaek, Maria
    HC Andersen Childrens Hospital, Denmark.
    Kinning, Esther
    So Gen Hospital, Scotland.
    Kleefstra, Tjitske
    Radboud University of Nijmegen, Netherlands.
    Kline, Antonie D.
    Greater Baltimore Medical Centre, MD USA.
    Kuchinskaya, Ekaterina
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för cellbiologi. Linköpings universitet, Hälsouniversitetet.
    Larizza, Lidia
    University of Milan, Italy.
    Li, Yun R.
    Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA.
    Liu, Xuanzhu
    BGI Shenzhen, Peoples R China.
    Mariani, Milena
    University of Milano Bicocca, Italy.
    Picker, Jonathan D.
    Boston Childrens Hospital, MA USA; Boston Childrens Hospital, MA USA.
    Pie, Angeles
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain.
    Pozojevic, Jelena
    Medical University of Lubeck, Germany.
    Queralt, Ethel
    Institute Invest Biomed Bellvitge IDIBELL LHospitalet, Spain.
    Richer, Julie
    Childrens Hospital Eastern Ontario, Canada; University of Ottawa, Canada.
    Roeder, Elizabeth
    University of Texas San Antonio, TX USA.
    Sinha, Anubha
    Birmingham Womens Hospital, England.
    Scott, Richard H.
    Great Ormond St Hospital Sick Children, England; UCL Institute Child Heatlh, England.
    So, Joyce
    CAMH, Canada; University of Health Network, Canada; Mt Sinai Hospital, Canada; University of Toronto, Canada.
    Wusik, Katherine A.
    Cincinnati Childrens Hospital Medical Centre, OH 45229 USA.
    Wilson, Louise
    Great Ormond St Hospital Sick Children, England.
    Zhang, Jianguo
    BGI Shenzhen, Peoples R China.
    Gomez-Puertas, Paulino
    Centre Biol Molecular Severo Ochoa CSIC UAM, Spain.
    Casale, Cesar H.
    National University of Rio Cuarto, Argentina.
    Stroem, Lena
    Karolinska Institute, Sweden.
    Selicorni, Angelo
    University of Milano Bicocca, Italy.
    Ramos, Feliciano J.
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain; Hospital Clin University of Lozano Blesa, Spain.
    Jackson, Laird G.
    Drexel University, PA 19104 USA.
    Krantz, Ian D.
    Childrens Hospital Philadelphia, PA 19104 USA; University of Penn, PA 19104 USA.
    Das, Soma
    University of Chicago, IL 60637 USA.
    Hennekam, Raoul C. M.
    University of Amsterdam, Netherlands.
    Kaiser, Frank J.
    Medical University of Lubeck, Germany.
    FitzPatrick, David R.
    University of Edinburgh, Scotland.
    Pie, Juan
    University of Zaragoza, Spain; University of Zaragoza, Spain; ISS Aragon, Spain.
    De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes2015Inngår i: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 36, nr 4, s. 454-462Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features from a single CdLS patient with SMC3 mutation has been published. Here, we report the efforts of an international research and clinical collaboration to provide clinical comparison of 16 patients with CdLS-like features caused by mutations in SMC3. Modeling of the mutation effects on protein structure suggests a dominant-negative effect on the multimeric cohesin complex. When compared with typical CdLS, many SMC3-associated phenotypes are also characterized by postnatal microcephaly but with a less distinctive craniofacial appearance, a milder prenatal growth retardation that worsens in childhood, few congenital heart defects, and an absence of limb deficiencies. While most mutations are unique, two unrelated affected individuals shared the same mutation but presented with different phenotypes. This work confirms that de novo SMC3 mutations account for approximate to 1%-2% of CdLS-like phenotypes.

  • 3.
    Cordeddu, Viviana
    et al.
    Ist Super Sanita, Italy; University of G dAnnunzio, Italy.
    Yin, Jiani C.
    University of Toronto, Canada; University of Toronto, Canada.
    Gunnarsson, Cecilia
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för cellbiologi. Region Östergötland, Diagnostikcentrum, Klinisk patologi och klinisk genetik. Linköpings universitet, Medicinska fakulteten.
    Virtanen, Carl
    University of Toronto, Canada; University of Toronto, Canada.
    Drunat, Severine
    Hop Robert Debre, France.
    Lepri, Francesca
    Bambino Gesu Pediat Hospital, Italy.
    De Luca, Alessandro
    Casa Sollievo Sofferenza Hospital, Italy.
    Rossi, Cesare
    St Orsola Marcello Malpighi Hospital, Italy.
    Ciolfi, Andrea
    Ist Super Sanita, Italy.
    Pugh, Trevor J.
    University of Toronto, Canada; University of Toronto, Canada.
    Bruselles, Alessandro
    Ist Super Sanita, Italy.
    Priest, James R.
    Stanford University, CA 94305 USA; Stanford University, CA 94305 USA.
    Pennacchio, Len A.
    University of Calif Berkeley, CA 94720 USA; US Department Energy Joint Genome Institute, CA 94598 USA.
    Lu, Zhibin
    University of Toronto, Canada; University of Toronto, Canada.
    Danesh, Arnavaz
    University of Toronto, Canada; University of Toronto, Canada.
    Quevedo, Rene
    University of Toronto, Canada; University of Toronto, Canada.
    Hamid, Alaa
    University of Toronto, Canada; University of Toronto, Canada.
    Martinelli, Simone
    Ist Super Sanita, Italy.
    Pantaleoni, Francesca
    Ist Super Sanita, Italy.
    Gnazzo, Maria
    Bambino Gesu Pediat Hospital, Italy.
    Daniele, Paola
    Casa Sollievo Sofferenza Hospital, Italy.
    Lissewski, Christina
    Otto von Guericke University, Germany.
    Bocchinfuso, Gianfranco
    University of Roma Tor Vergata, Italy.
    Stella, Lorenzo
    University of Roma Tor Vergata, Italy.
    Odent, Sylvie
    Hop SUD, France.
    Philip, Nicole
    Hop Enfants la Timone, France.
    Faivre, Laurence
    Hop Enfants, France.
    Vlckova, Marketa
    Charles University of Prague, Czech Republic; University Hospital Motol, Czech Republic.
    Seemanova, Eva
    Charles University of Prague, Czech Republic; University Hospital Motol, Czech Republic.
    Digilio, Cristina
    Bambino Gesu Pediat Hospital, Italy.
    Zenker, Martin
    Otto von Guericke University, Germany.
    Zampino, Giuseppe
    University of Cattolica Sacro Cuore, Italy.
    Verloes, Alain
    Hop Robert Debre, France.
    Dallapiccola, Bruno
    Bambino Gesu Pediat Hospital, Italy.
    Roberts, Amy E.
    Boston Childrens Hospital, MA 02115 USA; Boston Childrens Hospital, MA 02115 USA.
    Cave, Helene
    Hop Robert Debre, France; University of Paris Diderot, France.
    Gelb, Bruce D.
    Icahn School Medical Mt Sinai, NY 10029 USA; Icahn School Medical Mt Sinai, NY 10029 USA; Icahn School Medical Mt Sinai, NY 10029 USA.
    Neel, Benjamin G.
    University of Toronto, Canada; University of Toronto, Canada; NYU, NY 10016 USA.
    Tartaglia, Marco
    Ist Super Sanita, Italy; Bambino Gesu Pediat Hospital, Italy.
    Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome2015Inngår i: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 36, nr 11, s. 1080-1087Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The RASopathies constitute a family of autosomal-dominant disorders whose major features include facial dysmorphism, cardiac defects, reduced postnatal growth, variable cognitive deficits, ectodermal and skeletal anomalies, and susceptibility to certain malignancies. Noonan syndrome (NS), the commonest RASopathy, is genetically heterogeneous and caused by functional dysregulation of signal transducers and regulatory proteins with roles in the RAS/extracellular signal-regulated kinase (ERK) signal transduction pathway. Mutations in known disease genes account for approximately 80% of affected individuals. Here, we report that missense mutations altering Son of Sevenless, Drosophila, homolog 2 (SOS2), which encodes a RAS guanine nucleotide exchange factor, occur in a small percentage of subjects with NS. Four missense mutations were identified in five unrelated sporadic cases and families transmitting NS. Disease-causing mutations affected three conserved residues located in the Dbl homology (DH) domain, of which two are directly involved in the intramolecular binding network maintaining SOS2 in its autoinhibited conformation. All mutations were found to promote enhanced signaling from RAS to ERK. Similar to NS-causing SOS1 mutations, the phenotype associated with SOS2 defects is characterized by normal development and growth, as well as marked ectodermal involvement. Unlike SOS1 mutations, however, those in SOS2 are restricted to the DH domain.

  • 4.
    Harnevik, Lotta
    et al.
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Cellbiologi. Linköpings universitet, Hälsouniversitetet.
    Fjellstedt, Erik
    Department of Internal Medicine, Motala Hospital, Motala, Sweden.
    Molbæk, Annette
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Cellbiologi. Linköpings universitet, Hälsouniversitetet.
    Tiselius, Hans-Göran
    Department of Urology, University Hospital, Huddinge, Sweden.
    Denneberg, Torsten
    Linköpings universitet, Institutionen för biomedicin och kirurgi, Urologi. Linköpings universitet, Hälsouniversitetet.
    Söderkvist, Peter
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Cellbiologi. Linköpings universitet, Hälsouniversitetet.
    Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients2001Inngår i: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 18, nr 6, s. 516-525Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated with mutations in the amino acid transporter gene SLC3A1. The mutations detected in SLC3A1 tend to be population specific and have not been previously investigated in Sweden. We have screened the entire coding sequence and the intron/exon boundaries of the SLC3A1 gene in 53 cystinuria patients by means of single strand conformation polymorphism (SSCP) and DNA sequencing. We identified 12 novel mutations (a 2 bp deletion, one splice site mutation, and 10 missense mutations) and detected another three mutations that were previously reported. Five polymorphisms were also identified, four of which were formerly described. The most frequent mutation in this study was the previously reported M467T and it was also detected in the normal population with an allelic frequency of 0.5%. Thirty-seven patients were homozygous for mutations in the SLC3A1 gene and another seven were heterozygous which implies that other genes may be involved in cystinuria. Future investigation of the non-type I cystinuria gene SLC7A9 may complement our results but recent studies also suggest the presence of other potential disease genes.

  • 5. Ramus, Susan J
    et al.
    Antoniou, Antonis C
    Kuchenbaecker, Karoline B
    Soucy, Penny
    Beesley, Jonathan
    Chen, Xiaoqing
    McGuffog, Lesley
    Sinilnikova, Olga M
    Healey, Sue
    Barrowdale, Daniel
    Lee, Andrew
    Thomassen, Mads
    Gerdes, Anne-Marie
    Kruse, Torben A
    Jensen, Uffe Birk
    Skytte, Anne-Bine
    Caligo, Maria A
    Liljegren, Annelie
    Lindblom, Annika
    Olsson, Håkan
    Kristoffersson, Ulf
    Stenmark-Askmalm, Marie
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Onkologi. Linköpings universitet, Hälsouniversitetet. Östergötlands Läns Landsting, Diagnostikcentrum, Klinisk patologi och klinisk genetik.
    Melin, Beatrice
    Domchek, Susan M
    Nathanson, Katherine L
    Rebbeck, Timothy R
    Jakubowska, Anna
    Lubinski, Jan
    Jaworska, Katarzyna
    Durda, Katarzyna
    Złowocka, Elżbieta
    Gronwald, Jacek
    Huzarski, Tomasz
    Byrski, Tomasz
    Cybulski, Cezary
    Toloczko-Grabarek, Aleksandra
    Osorio, Ana
    Benitez, Javier
    Duran, Mercedes
    Tejada, Maria-Isabel
    Hamann, Ute
    Rookus, Matti
    van Leeuwen, Flora E
    Aalfs, Cora M
    Meijers-Heijboer, Hanne E J
    van Asperen, Christi J
    van Roozendaal, K E P
    Hoogerbrugge, Nicoline
    Collée, J Margriet
    Kriege, Mieke
    van der Luijt, Rob B
    Peock, Susan
    Frost, Debra
    Ellis, Steve D
    Platte, Radka
    Fineberg, Elena
    Evans, D Gareth
    Lalloo, Fiona
    Jacobs, Chris
    Eeles, Ros
    Adlard, Julian
    Davidson, Rosemarie
    Eccles, Diana
    Cole, Trevor
    Cook, Jackie
    Paterson, Joan
    Douglas, Fiona
    Brewer, Carole
    Hodgson, Shirley
    Morrison, Patrick J
    Walker, Lisa
    Porteous, Mary E
    Kennedy, M John
    Pathak, Harsh
    Godwin, Andrew K
    Stoppa-Lyonnet, Dominique
    Caux-Moncoutier, Virginie
    de Pauw, Antoine
    Gauthier-Villars, Marion
    Mazoyer, Sylvie
    Léoné, Mélanie
    Calender, Alain
    Lasset, Christine
    Bonadona, Valérie
    Hardouin, Agnès
    Berthet, Pascaline
    Bignon, Yves-Jean
    Uhrhammer, Nancy
    Faivre, Laurence
    Loustalot, Catherine
    Buys, Saundra
    Daly, Mary
    Miron, Alex
    Terry, Mary Beth
    Chung, Wendy K
    John, Esther M
    Southey, Melissa
    Goldgar, David
    Singer, Christian F
    Tea, Muy-Kheng
    Pfeiler, Georg
    Fink-Retter, Anneliese
    Hansen, Thomas v O
    Ejlertsen, Bent
    Johannsson, Oskar Th
    Offit, Kenneth
    Kirchhoff, Tomas
    Gaudet, Mia M
    Vijai, Joseph
    Robson, Mark
    Piedmonte, Marion
    Phillips, Kelly-Anne
    Van Le, Linda
    Hoffman, James S
    Ewart Toland, Amanda
    Montagna, Marco
    Tognazzo, Silvia
    Imyanitov, Evgeny
    Issacs, Claudine
    Janavicius, Ramunas
    Lazaro, Conxi
    Blanco, Iganacio
    Tornero, Eva
    Navarro, Matilde
    Moysich, Kirsten B
    Karlan, Beth Y
    Gross, Jenny
    Olah, Edith
    Vaszko, Tibor
    Teo, Soo-Hwang
    Ganz, Patricia A
    Beattie, Mary S
    Dorfling, Cecelia M
    van Rensburg, Elizabeth J
    Diez, Orland
    Kwong, Ava
    Schmutzler, Rita K
    Wappenschmidt, Barbara
    Engel, Christoph
    Meindl, Alfons
    Ditsch, Nina
    Arnold, Norbert
    Heidemann, Simone
    Niederacher, Dieter
    Preisler-Adams, Sabine
    Gadzicki, Dorotehea
    Varon-Mateeva, Raymonda
    Deissler, Helmut
    Gehrig, Andrea
    Sutter, Christian
    Kast, Karin
    Fiebig, Britta
    Schäfer, Dieter
    Caldes, Trinidad
    de la Hoya, Miguel
    Nevanlinna, Heli
    Aittomäki, Kristiina
    Plante, Marie
    Spurdle, Amanda B
    Neuhausen, Susan L
    Ding, Yuan Chun
    Wang, Xianshu
    Lindor, Noralane
    Fredericksen, Zachary
    Pankratz, V Shane
    Peterlongo, Paolo
    Manoukian, Siranoush
    Peissel, Bernard
    Zaffaroni, Daniela
    Bonanni, Bernardo
    Bernard, Loris
    Dolcetti, Riccardo
    Papi, Laura
    Ottini, Laura
    Radice, Paolo
    Greene, Mark H
    Mai, Phuong L
    Andrulis, Irene L
    Glendon, Gord
    Ozcelik, Hilmi
    Pharoah, Paul D P
    Gayther, Simon A
    Simard, Jacques
    Easton, Douglas F
    Couch, Fergus J
    Chenevix-Trench, Georgia
    Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.2012Inngår i: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 33, nr 4, s. 690-702Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 × 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 × 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 × 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer.

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