Pia Höglund

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi request reprint Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
    P Hoglund
    Department of Medical Genetics, Haartman Institute, Helsinki, Finland
    Nat Genet 14:316-9. 1996
  2. ncbi request reprint Disruption of the SLC26A3-mediated anion transport is associated with male subfertility
    Pia Höglund
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Fertil Steril 85:232-5. 2006
  3. ncbi request reprint Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations
    Pia Höglund
    Department of Pediatrics, University of Helsinki, Helsinki, Finland
    Am J Med Genet A 123:290-5. 2003
  4. ncbi request reprint Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Hum Mutat 18:233-42. 2001
  5. pmc Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Gut 48:724-7. 2001
  6. pmc Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait
    P Hoglund
    Department of Medical Genetics, University of Helsinki, Finland
    Am J Hum Genet 63:760-8. 1998
  7. ncbi request reprint Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Hum Mutat 11:321-7. 1998
  8. ncbi request reprint Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31
    P Hoglund
    Department of Medical Genetics, University of Helsinki, Finland
    Genome Res 6:202-10. 1996
  9. ncbi request reprint SLC26A3 mutations in congenital chloride diarrhea
    Siru Makela
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Hum Mutat 20:425-38. 2002
  10. doi request reprint Update on SLC26A3 mutations in congenital chloride diarrhea
    Satu Wedenoja
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Hum Mutat 32:715-22. 2011

Collaborators

Detail Information

Publications16

  1. ncbi request reprint Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea
    P Hoglund
    Department of Medical Genetics, Haartman Institute, Helsinki, Finland
    Nat Genet 14:316-9. 1996
    ..We conclude that DRA is an intestinal anion transport molecule that causes chloride diarrhoea when mutated...
  2. ncbi request reprint Disruption of the SLC26A3-mediated anion transport is associated with male subfertility
    Pia Höglund
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Fertil Steril 85:232-5. 2006
    ....
  3. ncbi request reprint Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations
    Pia Höglund
    Department of Pediatrics, University of Helsinki, Helsinki, Finland
    Am J Med Genet A 123:290-5. 2003
    ..Distinct from all these patients, the clinical picture of our patient is markedly milder, i.e., without growth retardation, microcephaly, or clear mental retardation...
  4. ncbi request reprint Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland
    Hum Mutat 18:233-42. 2001
    ..The increasingly wide diversity of SLC26A3 mutations suggests that mutations in the SLC26A3 gene may not be rare events...
  5. pmc Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Gut 48:724-7. 2001
    ..To date, almost 30 different mutations in the SLC26A3 gene have been identified throughout the world. No clear genotype-phenotype correlation has been established...
  6. pmc Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait
    P Hoglund
    Department of Medical Genetics, University of Helsinki, Finland
    Am J Hum Genet 63:760-8. 1998
    ..This suggests that mutations in the CLD locus are not rare events. Although the disease is thought to be rare, undiagnosed patients may not be uncommon...
  7. ncbi request reprint Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene
    P Hoglund
    Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Hum Mutat 11:321-7. 1998
    ..These short segments span only 6.7% of the total cDNA length, suggesting functional importance or mutation-prone DNA regions of the corresponding CLD/DRA protein domains...
  8. ncbi request reprint Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31
    P Hoglund
    Department of Medical Genetics, University of Helsinki, Finland
    Genome Res 6:202-10. 1996
    ..Both genes map within 450 kb from D7S496, making them functionally and positionally relevant candidates for CLD...
  9. ncbi request reprint SLC26A3 mutations in congenital chloride diarrhea
    Siru Makela
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Hum Mutat 20:425-38. 2002
    ..In this report, we present a summary of all published and two novel SLC26A3 mutations and polymorphisms, and review them in the context of their functional consequences and clinical implications...
  10. doi request reprint Update on SLC26A3 mutations in congenital chloride diarrhea
    Satu Wedenoja
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Hum Mutat 32:715-22. 2011
    ..This review summarizes the current knowledge of SLC26A3 mutations and polymorphisms, and their biological and clinical relevance...
  11. ncbi request reprint SLC26A3 and congenital chloride diarrhoea
    Pia Höglund
    Hospital for Children and Adolescents, University of Helsinki, FIN 00029 HUS, Helsinki, Finland
    Novartis Found Symp 273:74-86; discussion 86-90, 261-4. 2006
    ..Individual variation in the clinical picture of CLD is common, but not known to associate with the genotype...
  12. ncbi request reprint Expression of ion transport-associated proteins in human efferent and epididymal ducts
    Minna Kujala
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Reproduction 133:775-84. 2007
    ..Our findings suggest roles for these proteins in male fertility, either independently or through interaction and reciprocal regulation with co-localized proteins shown to affect fertility, when disrupted...
  13. doi request reprint The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea
    Satu Wedenoja
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Kidney Int 74:1085-93. 2008
    ..Interestingly, the transporter is expressed in the distal nephron but the recurrence of nephrocalcinosis in the transplanted kidney suggests that it does not play a significant renal role in this syndrome...
  14. ncbi request reprint Long-term clinical outcome in patients with congenital chloride diarrhea
    Satu Hihnala
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    J Pediatr Gastroenterol Nutr 42:369-75. 2006
    ..We studied the largest known cohort of patients to evaluate the long-term outcome of CLD and to search for extraintestinal manifestations...
  15. doi request reprint Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation
    Markus Johann Dechant
    Department of General Pediatrics and Neonatology, University Children s Hospital, Giessen, Germany
    Acta Paediatr 101:e256-9. 2012
    ..At molecular level, a homozygous mutation was detected in the solute carrier family 26 member A3 gene (SLC26A3), confirming the clinical diagnosis of CLD...
  16. pmc Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)
    Suvi Torniainen
    Department of Medical Genetics, University of Helsinki, Haartman Institute, Helsinki, Finland
    BMC Gastroenterol 9:8. 2009
    ..The purpose of this study was to identify new mutations underlying CLD in patients with different ethnic origins, and to increase awareness of this disease so that the patients could be sought out and treated correctly...