A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR
Wedenoja, Satu, Khamaysi, Ahlam, Shimshilashvili, Liana, Anbtawe-Jomaa, Shireen, Elomaa, Outi, Toppari, Jorma, Höglund, Pia, Aittomäki, Kristiina, Holmberg, Christer, Hovatta, Outi, Tapanainen, Juha S., Ohana, Ehud, Kere, Juha
Published in Scientific reports (27.10.2017)
Published in Scientific reports (27.10.2017)
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Journal Article
Expression of ion transport-associated proteins in human efferent and epididymal ducts
Kujala, Minna, Hihnala, Satu, Tienari, Jukka, Kaunisto, Kari, Hästbacka, Johanna, Holmberg, Christer, Kere, Juha, Höglund, Pia
Published in Reproduction (Cambridge, England) (01.04.2007)
Published in Reproduction (Cambridge, England) (01.04.2007)
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Journal Article
Oral Butyrate in Treatment of Congenital Chloride Diarrhea
Wedenoja, Satu, Holmberg, Christer, Höglund, Pia
Published in The American journal of gastroenterology (01.01.2008)
Published in The American journal of gastroenterology (01.01.2008)
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Journal Article
Update on SLC26A3 mutations in congenital chloride diarrhea
Wedenoja, Satu, Pekansaari, Elina, Höglund, Pia, Mäkelä, Siru, Holmberg, Christer, Kere, Juha
Published in Human mutation (01.07.2011)
Published in Human mutation (01.07.2011)
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Journal Article
Cl-Is Required for HCO3-Entry Necessary for Sperm Capacitation in Guinea Pig : Involvement of a Cl-/HCO3-Exchanger (SLC26A3) and CFTR
Chen, Wen Ying, Xu, Wen Ming, Chen, Zhang Hui, Ni, Ya, Yuan, Yu Ying, Zhou, Si Chang, Zhou, Wen Wei, Tsang, Lai Ling, Chung, Yiu Wa, Höglund, Pia, Chan, Hsiao Chang, Shi, Qi Xian
Published in Biology of reproduction (2009)
Published in Biology of reproduction (2009)
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Journal Article
Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD)
Torniainen, Suvi, Freddara, Roberta, Routi, Taina, Gijsbers, Carolien, Catassi, Carlo, Höglund, Pia, Savilahti, Erkki, Järvelä, Irma
Published in BMC gastroenterology (22.01.2009)
Published in BMC gastroenterology (22.01.2009)
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Journal Article
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea
Wedenoja, Satu, Örmälä, Timo, Berg, Ulla B., Halling, Stella F. Edström, Jalanko, Hannu, Karikoski, Riitta, Kere, Juha, Holmberg, Christer, Höglund, Pia
Published in Kidney international (01.10.2008)
Published in Kidney international (01.10.2008)
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Journal Article
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea
Moseley, Richard H, Höglund, Pia, Wu, Gary D, Silberg, Debra G, Haila, Siru, De La Chapelle, Albert, Holmberg, Christer, Kere, Juha
Published in American journal of physiology: Gastrointestinal and liver physiology (01.01.1999)
Published in American journal of physiology: Gastrointestinal and liver physiology (01.01.1999)
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Journal Article
Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency
Kurotaki, Naohiro, Shen, Joseph J., Touyama, Mayumi, Kondoh, Tatsuro, Visser, Remco, Ozaki, Takao, Nishimoto, Junji, Shiihara, Takashi, Uetake, Kimiaki, Makita, Yoshio, Harada, Naoki, Raskin, Salmo, Brown, Chester W., Höglund, Pia, Okamoto, Nobuhiko, Lupski, James R.
Published in Genetics in medicine (01.09.2005)
Published in Genetics in medicine (01.09.2005)
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Journal Article
Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability
Gürakan, Figen, Baysoy, Gökhan, Wedenoja, Satu, Uslu, Nuray, Ozen, Hasan, Ozaltin, Fatih, Höglund, Pia
Published in Turkish journal of pediatrics (01.03.2011)
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Published in Turkish journal of pediatrics (01.03.2011)
Journal Article
Cl− Is Required for HCO3− Entry Necessary for Sperm Capacitation in Guinea Pig: Involvement of a Cl−/HCO3− Exchanger (SLC26A3) and CFTR1
Chen, Wen Ying, Xu, Wen Ming, Chen, Zhang Hui, Ni, Ya, Yuan, Yu Ying, Zhou, Si Chang, Zhou, Wen Wei, Tsang, Lai Ling, Chung, Yiu Wa, Höglund, Pia, Chan, Hsiao Chang, Shi, Qi Xian
Published in Biology of reproduction (01.01.2009)
Published in Biology of reproduction (01.01.2009)
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Journal Article
Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait
Höglund, Pia, Auranen, Mari, Socha, Jerzy, Popinska, Kataryna, Nazer, Hisham, Rajaram, Usha, Al Sanie, Abdullah, Al-Ghanim, Mohammed, Holmberg, Christer, de la Chapelle, Albert, Kere, Juha
Published in American journal of human genetics (01.09.1998)
Published in American journal of human genetics (01.09.1998)
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Journal Article
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells
Haila, S, Saarialho-Kere, U, Karjalainen-Lindsberg, M L, Lohi, H, Airola, K, Holmberg, C, Hästbacka, J, Kere, J, Höglund, P
Published in Histochemistry and cell biology (01.04.2000)
Published in Histochemistry and cell biology (01.04.2000)
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Journal Article
Intestinal cancer in patients with a germline mutation in the down-regulated in adenoma (DRA) gene
HEMMINKI, A, HÖGLUND, P, PUKKALA, E, SALOVAARA, R, JÄRVINEN, H, NORIO, R, AALTONEN, L. A
Published in Oncogene (05.02.1998)
Published in Oncogene (05.02.1998)
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Journal Article
Genomic structure of the human congenital chloride diarrhea (CLD) gene
Haila, Siru, Höglund, Pia, Scherer, Stephen W, Lee, Jeffrey R, Kristo, Paula, Coyle, Beth, Trembath, Richard, Holmberg, Christer, de la Chapelle, Albert, Kere, Juha
Published in Gene (03.07.1998)
Published in Gene (03.07.1998)
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Journal Article
Monoallelic Expression of HumanPEG1/MESTIs Paralleled by Parent-Specific Methylation in Fetuses
Riesewijk, Anne M., Hu, Landian, Schulz, Ute, Tariverdian, Gholamali, Höglund, Pia, Kere, Jura, Ropers, Hans-Hilger, Kalscheuer, Vera M.
Published in Genomics (San Diego, Calif.) (01.06.1997)
Published in Genomics (San Diego, Calif.) (01.06.1997)
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