Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Pia Höglund"'
Autor:
Kristiina Aittomäki, Liana Shimshilashvili, Jorma Toppari, Juha S. Tapanainen, Satu Wedenoja, Pia Höglund, Outi Hovatta, Ahlam Khamaysi, Juha Kere, Outi Elomaa, Ehud Ohana, Shireen Anbtawe-Jomaa, Christer Holmberg
Publikováno v:
Scientific Reports
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Chloride absorption and bicarbonate excretion through exchange by the solute carrier family 26 member 3 (SLC26A3) and cystic fibrosis transmembrane conductance regulator (CFTR) are crucial for many tissues including sperm and epithelia of the male re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d3672def29ba5f9eb362572e776c33
https://doi.org/10.1038/s41598-017-14606-3
https://doi.org/10.1038/s41598-017-14606-3
Autor:
Susanne Prange-Schmidt, Pia Höglund, Satu Wedenoja, Markus-Johann Dechant, Klaus-Peter Zimmer, Matthias Heckmann
Publikováno v:
Acta Paediatrica. 101:e256-e259
UNLABELLED Congenital chloride diarrhoea (CLD) is a rare autosomal recessive disease with chronic secretory diarrhoea and a need for lifelong salt replacement therapy. We describe a male newborn of consanguineous parents with CLD. Postnatally, freque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84df47c01c093a014dd07d86d3be7596
https://doi.org/10.1111/j.1651-2227.2012.02610.x
https://doi.org/10.1111/j.1651-2227.2012.02610.x
Autor:
Wen Wei Zhou, Zhang Hui Chen, Sichang Zhou, Wen Ming Xu, Hsiao Chang Chan, Wen Ying Chen, Yiu Wa Chung, Pia Höglund, Yu Ying Yuan, Lai Ling Tsang, Ya Ni, Qi Xian Shi
Publikováno v:
Biology of Reproduction. 80:115-123
Our previous study demonstrated the involvement of cystic fibrosis transmembrane conductance regulator (CFTR) in transporting bicarbonate that is necessary for sperm capacitation; however, whether its involvement is direct or indirect remains unclear
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::eba9e3a3477b2f4ab68d2fc876fac3bc
https://doi.org/10.1095/biolreprod.108.068528
https://doi.org/10.1095/biolreprod.108.068528
Autor:
Stella Edström Halling, Pia Höglund, Ulla B. Berg, Satu Wedenoja, Juha Kere, Riitta Karikoski, Christer Holmberg, Timo Örmälä, Hannu Jalanko
Publikováno v:
Kidney International. 74(8):1085-1093
Congenital chloride diarrhea is due to mutations in the intestinal Cl(-)/HCO(3)(-) exchange (SLC26A3) which results in sodium chloride and fluid depletion leading to hypochloremic and hypokalemic metabolic alkalosis. Although treatment with sodium an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e25f02bbdf5292380571094019efb5
Autor:
Jukka Tienari, Christer Holmberg, Pia Höglund, Minna Kujala, Juha Kere, Kari Kaunisto, Johanna Hästbacka, Satu Hihnala
Publikováno v:
Reproduction. 133:775-784
Appropriate intraluminal microenvironment in the epididymis is essential for maturation of sperm. To clarify whether the anion transporters SLC26A2, SLC26A6, SLC26A7, and SLC26A8 might participate in generating this proper intraluminal milieu, we stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f7ed43b0b0f40778ea58c96e9c2eec9
https://doi.org/10.1530/rep.1.00964
https://doi.org/10.1530/rep.1.00964
Publikováno v:
American Journal of Medical Genetics Part A. :290-295
We describe a 4-year-old boy with an accessory right thumb, short and broad toes, cryptorchidism, micrognathia, abnormally modeled ears, and delayed speech development. The chromosome analysis of patient's peripheral blood lymphocytes by conventional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4d31826b8b5eba6450ec772a9b1f3d1
https://doi.org/10.1002/ajmg.a.20385
https://doi.org/10.1002/ajmg.a.20385
Publikováno v:
Human Mutation. 20:425-438
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder of intestinal electrolyte absorption. It is characterized by persistent secretory diarrhea resulting in polyhydramnios and prematurity prenatally, and dehydration, hypoelectrolytem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8a268d2023badf0b9f6205d433a04c15
https://doi.org/10.1002/humu.10139
https://doi.org/10.1002/humu.10139
Autor:
Marita Lipsanen-Nyman, Christer Holmberg, Juha Kere, Stephen W. Scherer, Pia Höglund, Katariina Hannula
Publikováno v:
Genomics. 73:1-9
Genomic imprinting, the differential expression of paternal and maternal alleles, involves many chromosomal regions and plays a role in development and growth. Differential methylation of maternal and paternal alleles is a hallmark of imprinted genes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df50669effa0036bc107e90d93b76359
https://doi.org/10.1006/geno.2001.6502
https://doi.org/10.1006/geno.2001.6502
Autor:
Pia Höglund, Christer Holmberg, Juha Kere, W. Scheurlen, Hugo R. de Jonge, Markus J. Sormaala, Siru Haila, Maarten Sinaasappel, Jerzy Socha, Usha Rajaram, Hideto Yoshikawa
Publikováno v:
Human Mutation, 18, 233-242. Wiley-Liss Inc.
Congenital chloride diarrhea (CLD) is an autosomal recessive disorder characterized by defective intestinal electrolyte absorption, resulting in voluminous osmotic diarrhea with high chloride content. A variety of mutations in the solute carrier fami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c612dd62e7305ca70bbb2656083e5be1
https://pure.eur.nl/en/publications/4594c63f-e4dd-4565-90e4-3cc68ac67330
https://pure.eur.nl/en/publications/4594c63f-e4dd-4565-90e4-3cc68ac67330
Autor:
Outi Monni, R. Oinonen, Kaarle Franssila, Ying Zhu, Pia Höglund, Erkki Elonen, Sakari Knuutila, Heikki Joensuu
Publikováno v:
British Journal of Haematology. 104:665-671
Chromosomal deletions at 11q21-23 have recently been reported to be common aberrations in mantle cell lymphoma (MCL). To characterize the structure of the deletion, we studied 41 cases of MCL by fluorescence in situ hybridization using a YAC contig,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d3c602f37fec87c5a017d05acf434ea
https://doi.org/10.1046/j.1365-2141.1999.01257.x
https://doi.org/10.1046/j.1365-2141.1999.01257.x