P. Höglund

发表

A serine/threonine kinase gene defective in Peutz–Jeghers syndrome

M. Stratton, G. Bignell, L. Aaltonen, 1998, Nature.

SLC9A3 in ulcerative colitis Upregulation of CFTR expression but not SLC26A3 and

J. Kere, P. Höglund, H. Lohi, 2016 .

Upregulation of CFTR expression but not SLC26A3 and SLC9A3 in ulcerative colitis.

J. Kere, M. Karjalainen‐Lindsberg, P. Höglund, 2002, American journal of physiology. Gastrointestinal and liver physiology.

Upregulation of CFTR expression but not SLC 26 A 3 and SLC 9 A 3 in ulcerative colitis

J. Kere, M. Karjalainen‐Lindsberg, P. Höglund, 2002 .

The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea.

J. Kere, U. Berg, P. Höglund, 2008, Kidney international.

Expression of ion transport-associated proteins in human efferent and epididymal ducts.

J. Kere, P. Höglund, C. Holmberg, 2007, Reproduction.

SLC26A3 mutations in congenital chloride diarrhea

J. Kere, P. Höglund, C. Holmberg, 2002, Human mutation.

III. Congenital chloride diarrhea.

J. Kere, P. Höglund, H. Lohi, 1999, American journal of physiology. Gastrointestinal and liver physiology.

Cl− Is Required for HCO3− Entry Necessary for Sperm Capacitation in Guinea Pig: Involvement of a Cl−/HCO3− Exchanger (SLC26A3) and CFTR1

Wen Ying Chen, P. Höglund, H. Chan, 2009, Biology of reproduction.

Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations

P. Höglund, T. Alitalo, E. Marttinen, 2003, American journal of medical genetics. Part A.

Molecular characterization of deletion at 11q22.1‐23.3 in mantle cell lymphoma

K. Franssila, S. Knuutila, O. Monni, 1999, British journal of haematology.

Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene

N. Matsumoto, P. Höglund, N. Miyake, 2003, Journal of medical genetics.

Disruption of the SLC26A3-mediated anion transport is associated with male subfertility.

L. Dunkel, P. Höglund, C. Holmberg, 2006, Fertility and sterility.

Characterization of human buccal epithelial cells transfected with the simian virus 40 T-antigen gene.

C. Betsholtz, B. Zhivotovsky, K. Wiman, 1995, Carcinogenesis.

SLC26A3 and congenital chloride diarrhoea.

P. Höglund, 2006, Novartis Foundation symposium.

Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31.

S. Scherer, J. Weissenbach, L. Tsui, 1996, Genome research.

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea

J. Kere, A. de la Chapelle, D. Silberg, 1998 .

Update on SLC26A3 mutations in congenital chloride diarrhea

J. Kere, P. Höglund, C. Holmberg, 2011, Human mutation.

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

J. Kere, J. Toppari, K. Aittomäki, 2017, Scientific Reports.

Inherited disorders of ion transport in the intestine.

J. Kere, P. Höglund, Juha Kere, 2000, Current opinion in genetics & development.

Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium.

J. Kere, A. de la Chapelle, P. Sistonen, 1995, American journal of human genetics.

Human MutationMUTATION UPDATE Update on SLC 26 A 3 Mutations in Congenital Chloride Diarrhea

J. Kere, P. Höglund, C. Holmberg, 2011 .

Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea

J. Kere, P. Höglund, W. Scheurlen, 2001, Human mutation.

The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells

J. Kere, M. Karjalainen‐Lindsberg, P. Höglund, 2000, Histochemistry and Cell Biology.

III. Congenital chloride diarrhea.

J. Kere, P. Höglund, H. Lohi, 1999, American journal of physiology. Gastrointestinal and liver physiology.

Genomic structure of the human congenital chloride diarrhea (CLD) gene.

S. Scherer, A. Chapelle, J. Kere, 1998, Gene.

Mutations of the Down–regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

Christer Holmberg, Juha Kere, A. Chapelle, 1996, Nature Genetics.

Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea.

J. Kere, A. de la Chapelle, D. Silberg, 1999, American journal of physiology. Gastrointestinal and liver physiology.

Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.

J. Kere, A. de la Chapelle, P. Höglund, 1998, American journal of human genetics.

Clustering of private mutations in the congenital chloride diarrhea/down‐regulated in adenoma gene

J. Kere, A. de la Chapelle, P. Höglund, 1998, Human mutation.

Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.

J. Kere, A. de la Chapelle, P. Höglund, 1994, American journal of human genetics.

Monoallelic expression of human PEG1/MEST is paralleled by parent-specific methylation in fetuses.

J. Kere, H. Ropers, V. Kalscheuer, 1997, Genomics.

Maternal and paternal chromosomes 7 show differential methylation of many genes in lymphoblast DNA.

S. Scherer, J. Kere, P. Höglund, 2001, Genomics.

Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency

J. Lupski, T. Shiihara, Y. Makita, 2005, Genetics in Medicine.

Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)

I. Järvelä, P. Höglund, E. Savilahti, 2009, BMC gastroenterology.

Long-Term Clinical Outcome in Patients With Congenital Chloride Diarrhea

P. Höglund, C. Holmberg, J. Kokkonen, 2006, Journal of pediatric gastroenterology and nutrition.

Follow‐up of a child with congenital chloride diarrhoea caused by a novel mutation

P. Höglund, K. Zimmer, M. Heckmann, 2012, Acta paediatrica.

Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment

J. Kere, P. Höglund, C. Holmberg, 2001, Gut.

Expression of SLC26A3, CFTR and NHE3 in the human male reproductive tract: role in male subfertility caused by congenital chloride diarrhoea.

J. Kere, J. Toppari, P. Höglund, 2006, Molecular human reproduction.

Oral butyrate in treatment of congenital chloride diarrhea.

P. Höglund, C. Holmberg, S. Wedenoja, 2008, The American journal of gastroenterology.

Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene

L. Aaltonen, H. Järvinen, A. Hemminki, 1998, Oncogene.

Review article: the clinical management of congenital chloride diarrhoea

P. Höglund, C. Holmberg, S. Wedenoja, 2010, Alimentary pharmacology & therapeutics.