Works by Klar, Joakim

Results: 43

Epigenetic insights into GABAergic development in Dravet Syndrome iPSC and therapeutic implications.

Published in:

eLife, 2024, p. 1, doi. 10.7554/eLife.92599

By:

Schuster, Jens;
Xi Lu;
Yonglong Dang;
Klar, Joakim;
Wenz, Amelie;
Dahl, Niklas;
Xingqi Chen

Publication type:

Article

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 7, p. N.PAG, doi. 10.1002/mgg3.723

By:

Clewemar, Pantelis;
Hailer, Nils P.;
Hailer, Yasmin;
Klar, Joakim;
Kindmark, Andreas;
Ljunggren, Östen;
Stattin, Eva‐Lena

Publication type:

Article

Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia.

Published in:

Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.874490

By:

Fineschi, Serena;
Klar, Joakim;
Gustafsson, Kristin Ayoola;
Jonsson, Kent;
Karlsson, Bo;
Dahl, Niklas

Publication type:

Article

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors.

Published in:

Clinical Epigenetics, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13148-019-0803-1

By:

Laan, Loora;
Klar, Joakim;
Sobol, Maria;
Hoeber, Jan;
Shahsavani, Mansoureh;
Kele, Malin;
Fatima, Ambrin;
Zakaria, Muhammad;
Annerén, Göran;
Falk, Anna;
Schuster, Jens;
Dahl, Niklas

Publication type:

Article

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease.

Published in:

BMC Pulmonary Medicine, 2016, v. 16, p. 1, doi. 10.1186/s12890-016-0309-y

By:

Matsson, Hans;
Söderhäll, Cilla;
Einarsdottir, Elisabet;
Lamontagne, Maxime;
Gudmundsson, Sanna;
Backman, Helena;
Lindberg, Anne;
Rönmark, Eva;
Kere, Juha;
Sin, Don;
Postma, Dirkje S.;
Bossé, Yohan;
Lundbäck, Bo;
Klar, Joakim

Publication type:

Article

Vascular endothelial growth factor B controls endothelial fatty acid uptake.

Published in:

Nature, 2010, v. 464, n. 7290, p. 917, doi. 10.1038/nature08945

By:

Hagberg, Carolina E.;
Falkevall, Annelie;
Xun Wang;
Larsson, Erik;
Huusko, Jenni;
Nilsson, Ingrid;
van Meeteren, Laurens A.;
Samen, Erik;
Li Lu;
Vanwildemeersch, Maarten;
Klar, Joakim;
Genove, Guillem;
Pietras, Kristian;
Stone-Elander, Sharon;
Claesson-Welsh, Lena;
Ylä-Herttuala, Seppo;
Lindahl, Per;
Eriksson, Ulf

Publication type:

Article

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands.

Published in:

Nature Genetics, 2005, v. 37, n. 2, p. 125, doi. 10.1038/ng1507

By:

Entesarian, Miriam;
Matsson, Hans;
Klar, Joakim;
Bergendal, Birgitta;
Olson, Lena;
Arakaki, Rieko;
Hayashi, Yoshio;
Ohuchi, Hideyo;
Falahat, Babak;
Bolstad, Anne Isine;
Jonsson, Roland;
Wahren-Herlenius, Marie;
Dahl, Niklas

Publication type:

Article

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia.

Published in:

Nature Genetics, 1999, v. 21, n. 2, p. 169, doi. 10.1038/5951

By:

Draptchinskaia, Natalia;
Gustavsson, Peter;
Andersson, Björn;
Pettersson, Monica;
Willig, Thiébaut-Noël;
Dianzani, Irma;
Ball, Sarah;
Tchernia, Gil;
Klar, Joakim;
Matsson, Hans;
Tentler, Dimitri;
Mohandas, Narla;
Carlsson, Birgit;
Dahl, Niklas

Publication type:

Article

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.

Published in:

International Journal of Hematology, 2020, v. 112, n. 6, p. 894, doi. 10.1007/s12185-020-02950-6

By:

Akram, Talia;
Fatima, Ambrin;
Klar, Joakim;
Hoeber, Jan;
Zakaria, Muhammad;
Tariq, Muhammad;
Baig, Shahid M.;
Schuster, Jens;
Dahl, Niklas

Publication type:

Article

Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family.

Published in:

Pakistan Journal of Medical Sciences, 2011, v. 27, n. 3, p. 686

By:

Nawaz, Sadia;
Tariq, Muhammad;
Azhar, Aysha;
Rasool, Mahmood;
Bakhtiar, Syeda Marriam;
Ahmad, Ilyas;
ur Rehman, Shoaib;
Jameel, Muhammad;
Khan, Tahir Naeem;
Baig, Shehla Anjum;
Klar, Joakim;
Dahl, Niklas;
Baig, Shahid Mahmood

Publication type:

Article

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

Published in:

BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0349-4

By:

Bergendal, Birgitta;
Norderyd, Johanna;
Xiaolei Zhou;
Klar, Joakim;
Dahl, Niklas

Publication type:

Article

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.

Published in:

BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0326-y

By:

Hannuksela, Matias;
Stattin, Eva-Lena;
Klar, Joakim;
Ameur, Adam;
Johansson, Bengt;
Sörensen, Karen;
Carlberg, Bo

Publication type:

Article

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 69, doi. 10.1186/s12881-014-0133-2

By:

Jameel, Muhammad;
Klar, Joakim;
Tariq, Muhammad;
Moawia, Abubakar;
Malik, Naveed Altaf;
Waseem, Syeda Seema;
Abdullah, Uzma;
Khan, Tahir Naeem;
Raininko, Raili;
Baig, Shahid Mahmood;
Dahl, Niklas

Publication type:

Article

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

Published in:

BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-71

By:

Schuster, Jens;
Naeem Khan, Tahir;
Tariq, Muhammad;
Arzoo Shaiq, Pakeeza;
Mäbert, Katrin;
Mahmood Baig, Shahid;
Klar, Joakim

Publication type:

Article

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I).

Published in:

BMC Medical Genetics, 2012, v. 13, n. 1, p. 120, doi. 10.1186/1471-2350-13-120

By:

Khan, Tahir Naeem;
Klar, Joakim;
Nawaz, Sadia;
Jameel, Muhammad;
Tariq, Muhammad;
Malik, Naveed Altaf;
Baig, Shahid M;
Dahl, Niklas

Publication type:

Article

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage.

Published in:

PLoS Genetics, 2017, v. 13, n. 7, p. 1, doi. 10.1371/journal.pgen.1006897

By:

Klar, Joakim;
Piontek, Jörg;
Milatz, Susanne;
Tariq, Muhammad;
Jameel, Muhammad;
Breiderhoff, Tilman;
Schuster, Jens;
Fatima, Ambrin;
Asif, Maria;
Sher, Muhammad;
Mäbert, Katrin;
Fromm, Anja;
Baig, Shahid M.;
Günzel, Dorothee;
Dahl, Niklas

Publication type:

Article

Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of RTTN exon 42.

Published in:

Human Mutation, 2019, v. 40, n. 7, p. 899, doi. 10.1002/humu.23755

By:

Zakaria, Muhammad;
Fatima, Ambrin;
Klar, Joakim;
Wikström, Johan;
Abdullah, Uzma;
Ali, Zafar;
Akram, Talia;
Tariq, Muhammad;
Ahmad, Habib;
Schuster, Jens;
Baig, Shahid M;
Dahl, Niklas

Publication type:

Article

Welander Distal Myopathy Caused by an Ancient Founder Mutation in TIA1 Associated with Perturbed Splicing.

Published in:

Human Mutation, 2013, v. 34, n. 4, p. 572, doi. 10.1002/humu.22282

By:

Klar, Joakim;
Sobol, Maria;
Melberg, Atle;
Mäbert, Katrin;
Ameur, Adam;
Johansson, Anna C.V.;
Feuk, Lars;
Entesarian, Miriam;
Örlén, Hanna;
Casar‐Borota, Olivera;
Dahl, Niklas

Publication type:

Article

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association.

Published in:

Journal of Human Genetics, 2010, v. 55, n. 12, p. 834, doi. 10.1038/jhg.2010.122

By:

Gabriková, Dana;
Frykholm, Carina;
Friberg, Ulla;
Lahsaee, Sara;
Entesarian, Miriam;
Dahl, Niklas;
Klar, Joakim

Publication type:

Article

Recurrent GATA1 mutations in Diamond-Blackfan anaemia.

Published in:

British Journal of Haematology, 2014, v. 166, n. 6, p. 949, doi. 10.1111/bjh.12919

By:

Klar, Joakim;
Khalfallah, Ayda;
Arzoo, Pakeeza Shaiq;
Gazda, Hanna T.;
Dahl, Niklas

Publication type:

Article

Recurrent GATA1 mutations in Diamond-Blackfan anaemia.

Published in:

British Journal of Haematology, 2014, v. 165, n. 1, p. 949, doi. 10.1111/bjh.12919

By:

Klar, Joakim;
Khalfallah, Ayda;
Arzoo, Pakeeza Shaiq;
Gazda, Hanna T.;
Dahl, Niklas

Publication type:

Article

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome.

Published in:

Clinical Genetics, 2021, v. 99, n. 2, p. 318, doi. 10.1111/cge.13878

By:

Delvallée, Clarisse;
Nicaise, Samuel;
Antin, Manuela;
Leuvrey, Anne‐Sophie;
Nourisson, Elsa;
Leitch, Carmen C.;
Kellaris, Georgios;
Stoetzel, Corinne;
Geoffroy, Véronique;
Scheidecker, Sophie;
Keren, Boris;
Depienne, Christel;
Klar, Joakim;
Dahl, Niklas;
Deleuze, Jean‐François;
Génin, Emmanuelle;
Redon, Richard;
Demurger, Florence;
Devriendt, Koenraad;
Mathieu‐Dramard, Michèle

Publication type:

Article

Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1679, doi. 10.1038/ejhg.2015.49

By:

Klar, Joakim;
Raykova, Doroteya;
Gustafson, Elisabet;
Tóthová, Iveta;
Ameur, Adam;
Wanders, Alkwin;
Dahl, Niklas

Publication type:

Article

Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation.

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1180, doi. 10.1038/ejhg.2014.5

By:

Khan, Tahir Naeem;
Klar, Joakim;
Tariq, Muhammad;
Anjum Baig, Shehla;
Malik, Naveed Altaf;
Yousaf, Raja;
Baig, Shahid Mahmood;
Dahl, Niklas

Publication type:

Article

WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome.

Published in:

European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1600, doi. 10.1038/ejhg.2009.81

By:

Nawaz, Sadia;
Klar, Joakim;
Wajid, Muhammad;
Aslam, Muhammad;
Tariq, Muhammad;
Schuster, Jens;
Baig, Shahid Mahmood;
Dahl, Niklas

Publication type:

Article

RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity.

Published in:

European Journal of Human Genetics, 2005, v. 13, n. 8, p. 928, doi. 10.1038/sj.ejhg.5201433

By:

Klar, Joakim;
Åsling, Bengt;
Carlsson, Birgit;
Ulvsbäck, Magnus;
Dellsén, Anita;
Ström, Carina;
Rhedin, Magdalena;
Forslund, Anders;
Annerén, Göran;
Ludvigsson, Jonas F.;
Dahl, Niklas

Publication type:

Article

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome.

Published in:

BMC Research Notes, 2011, v. 4, n. 1, p. 90, doi. 10.1186/1756-0500-4-90

By:

Sobol, Maria;
Dahl, Niklas;
Klar, Joakim

Publication type:

Article

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions.

Published in:

Molecular Neurobiology, 2019, v. 56, n. 10, p. 7113, doi. 10.1007/s12035-019-1585-3

By:

Sobol, Maria;
Klar, Joakim;
Laan, Loora;
Shahsavani, Mansoureh;
Schuster, Jens;
Annerén, Göran;
Konzer, Anne;
Mi, Jia;
Bergquist, Jonas;
Nordlund, Jessica;
Hoeber, Jan;
Huss, Mikael;
Falk, Anna;
Dahl, Niklas

Publication type:

Article

Cooperative effect of ribosomal protein s19 and Pim-1 kinase on murine c-Myc expression and myeloid/erythroid cellularity.

Published in:

Journal of Molecular Medicine, 2010, v. 88, n. 1, p. 39, doi. 10.1007/s00109-009-0558-9

By:

Fröjmark, Anne-Sophie;
Badhai, Jitendra;
Klar, Joakim;
Thuveson, Maria;
Schuster, Jens;
Dahl, Niklas

Publication type:

Article

Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.

Published in:

Clinical Autonomic Research, 2023, v. 33, n. 4, p. 421, doi. 10.1007/s10286-023-00963-9

By:

Fagius, Jan;
Klar, Joakim;
Dahl, Niklas

Publication type:

Article

Alpha-cardiac actin mutations produce atrial septal defects.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 256, doi. 10.1093/hmg/ddm302

By:

Matsson, Hans;
Eason, Jacqueline;
Bookwalter, Carol S.;
Klar, Joakim;
Gustavsson, Peter;
Sunnegårdh, Jan;
Enell, Henrik;
Jonzon, Anders;
Vikkula, Miikka;
Gutierrez, Ilse;
Granados-Riveron, Javier;
Pope, Mark;
Bu’Lock, Frances;
Cox, Jane;
Robinson, Thelma E;
Song, Feifei;
Brook, David J;
Marston, Steven;
Trybus, Kathleen M.;
Dahl, Niklas

Publication type:

Article

Autosomal Recessive Transmission of a Rare <i>KRT74</i> Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis.

Published in:

PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0093607

By:

Raykova, Doroteya;
Klar, Joakim;
Azhar, Aysha;
Khan, Tahir Naeem;
Malik, Naveed Altaf;
Iqbal, Muhammad;
Tariq, Muhammad;
Baig, Shahid Mahmood;
Dahl, Niklas

Publication type:

Article

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants.

Published in:

BMC Medical Genomics, 2020, v. 13, n. 1, p. 1, doi. 10.1186/s12920-020-00737-6

By:

Klar, Joakim;
Engstrand-Lilja, Helene;
Maqbool, Khurram;
Mattisson, Jonas;
Feuk, Lars;
Dahl, Niklas

Publication type:

Article

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Published in:

BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0504-6

By:

Ali, Zafar;
Zulfiqar, Shumaila;
Klar, Joakim;
Wikström, Johan;
Ullah, Farid;
Khan, Ayaz;
Abdullah, Uzma;
Baig, Shahid;
Dahl, Niklas

Publication type:

Article

Variant Phenotype of Best Vitelliform Macular Dystrophy Associated with Compound Heterozygous Mutations in VMD2.

Published in:

Ophthalmic Genetics, 2006, v. 27, n. 2, p. 51, doi. 10.1080/13816810600677990

By:

Schatz, Patrik;
Klar, Joakim;
Andréasson, Sten;
Ponjavic, Vesna;
Dahl, Niklas

Publication type:

Article

WNT 10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Published in:

American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 353, doi. 10.1002/ajmg.a.36243

By:

Arzoo, Pakeeza Shaiq;
Klar, Joakim;
Bergendal, Birgitta;
Norderyd, Johanna;
Dahl, Niklas

Publication type:

Article

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.

Published in:

American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1616, doi. 10.1002/ajmg.a.34045

By:

Bergendal, Birgitta;
Klar, Joakim;
Stecksén-Blicks, Christina;
Norderyd, Johanna;
Dahl, Niklas

Publication type:

Article

ZEB2 haploinsufficient Mowat-Wilson syndrome induced pluripotent stem cells show disrupted GABAergic transcriptional regulation and function.

Published in:

Frontiers in Molecular Neuroscience, 2022, v. 15, p. 01, doi. 10.3389/fnmol.2022.988993

By:

Schuster, Jens;
Klar, Joakim;
Khalfallah, Ayda;
Laan, Loora;
Hoeber, Jan;
Fatima, Ambrin;
Sequeira, Velin Marita;
Zhe Jin;
Korol, Sergiy V.;
Huss, Mikael;
Nordgren, Ann;
Anderlid, Britt Marie;
Gallant, Caroline;
Birnir, Bryndis;
Dahl, Niklas

Publication type:

Article

Frizzled6 Deficiency Disrupts the Differentiation Process of Nail Development.

Published in:

Journal of Investigative Dermatology, 2013, v. 133, n. 8, p. 1990, doi. 10.1038/jid.2013.84

By:

Cui, Chang-Yi;
Klar, Joakim;
Georgii-Heming, Patrik;
Fröjmark, Anne-Sophie;
Baig, Shahid M;
Schlessinger, David;
Dahl, Niklas

Publication type:

Article

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Published in:

Genes, 2023, v. 14, n. 7, p. 1404, doi. 10.3390/genes14071404

By:

Saadi, Saadia Maryam;
Cali, Elisa;
Khalid, Lubaba Bintee;
Yousaf, Hammad;
Zafar, Ghazala;
Khan, Haq Nawaz;
Sher, Muhammad;
Vona, Barbara;
Abdullah, Uzma;
Malik, Naveed Altaf;
Klar, Joakim;
Efthymiou, Stephanie;
Dahl, Niklas;
Houlden, Henry;
Toft, Mathias;
Baig, Shahid Mahmood;
Fatima, Ambrin;
Iqbal, Zafar

Publication type:

Article

Familial transient erythroblastopenia of childhood is associated with the chromosome 19q13.2 region but not caused by mutations in coding sequences of the ribosomal protein S19 (RPS19) gene.

Published in:

British Journal of Haematology, 2002, v. 119, n. 1, p. 261, doi. 10.1046/j.1365-2141.2002.03776.x

By:

Gustavsson, Peter;
Klar, Joakim;
Matsson, Hans;
Forestier, Erik;
Henter, Jan-Inge;
Rao, Sreedhar;
Seip, Martin;
Skeppner, Gunnar;
Dahl, Niklas

Publication type:

Article

Abolished InsP3R2 function inhibits sweat secretion in both humans and mice.

Published in:

2014

By:

Klar, Joakim;
Hisatsune, Chihiro;
Baig, Shahid M;
Tariq, Muhammad;
Johansson, Anna C V;
Rasool, Mahmood;
Malik, Naveed Altaf;
Ameur, Adam;
Sugiura, Kotomi;
Feuk, Lars;
Mikoshiba, Katsuhiko;
Dahl, Niklas

Publication type:

journal article

Abolished InsP<sub>3</sub> R2 function inhibits sweat secretion in both humans and mice.

Published in:

Journal of Clinical Investigation, 2014, v. 124, n. 11, p. 4773, doi. 10.1172/JCI70720

By:

Klar, Joakim;
Hisatsune, Chihiro;
Baig, Shahid M.;
Tariq, Muhammad;
Johansson, Anna C. V.;
Rasool, Mahmood;
Altaf Malik, Naveed;
Ameur, Adam;
Sugiura, Kotomi;
Feuk, Lars;
Katsuhiko Mikoshiba;
Dahl, Niklas

Publication type:

Article