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Page 1
Antenatal Bartter syndrome.
Afzal M, Khan EA, Khan WA, Anwar V, Yaqoob A, Rafiq S, Azam S. Afzal M, et al. J Coll Physicians Surg Pak. 2014 May;24 Suppl 2:S121-3. J Coll Physicians Surg Pak. 2014. PMID: 24906263
Pharmacotyping of hypokalaemic salt-losing tubular disorders.
Reinalter SC, Jeck N, Peters M, Seyberth HW. Reinalter SC, et al. Acta Physiol Scand. 2004 Aug;181(4):513-21. doi: 10.1111/j.1365-201X.2004.01325.x. Acta Physiol Scand. 2004. PMID: 15283765 Review.
The latter two syndromes are the most severe variants with antenatal manifestation with polyhydramnios and life-threatening course of salt- and water-loss. Defects in five renal membrane proteins involved in electrolyte reabsorption have been identified: In HPS-patients mu …
The latter two syndromes are the most severe variants with antenatal manifestation with polyhydramnios and life-threatening course of …
Long-term follow-up of patients with Bartter syndrome type I and II.
Puricelli E, Bettinelli A, Borsa N, Sironi F, Mattiello C, Tammaro F, Tedeschi S, Bianchetti MG; Italian Collaborative Group for Bartter Syndrome. Puricelli E, et al. Nephrol Dial Transplant. 2010 Sep;25(9):2976-81. doi: 10.1093/ndt/gfq119. Epub 2010 Mar 10. Nephrol Dial Transplant. 2010. PMID: 20219833 Free article.
CONCLUSIONS: Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a median follow-up of more than 10 years. Gallstones might represent a new complication of antenatal Bartter syndrome....
CONCLUSIONS: Patients with Bartter syndrome type I and II tend to present a satisfactory prognosis after a median follow-up of more t …
Recurrent urinary tract infections in an infant with antenatal Bartter syndrome.
Tasic V, Pota L, Gucev Z. Tasic V, et al. World J Pediatr. 2011 Feb;7(1):86-8. doi: 10.1007/s12519-010-0021-6. Epub 2010 Feb 1. World J Pediatr. 2011. PMID: 20127218
Despite appropriate treatment she had persistent hypercalciuria. The clinical course was complicated with recurrent episodes of febrile UTIs. Urinary tract system imaging did not demonstrate congenital anomalies. ...
Despite appropriate treatment she had persistent hypercalciuria. The clinical course was complicated with recurrent episodes of febri …
Genetic analysis in Bartter syndrome from India.
Sharma PK, Saikia B, Sharma R, Ankur K, Khilnani P, Aggarwal VK, Cheong H. Sharma PK, et al. Indian J Pediatr. 2014 Oct;81(10):1095-8. doi: 10.1007/s12098-014-1379-6. Epub 2014 Apr 4. Indian J Pediatr. 2014. PMID: 24696311
Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling....
Bartter syndrome is a clinical diagnosis and genetic analysis is recommended for prognostication and genetic counseling....
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome.
Breinbjerg A, Siggaard Rittig C, Gregersen N, Rittig S, Hvarregaard Christensen J. Breinbjerg A, et al. Acta Paediatr. 2017 Jan;106(1):161-167. doi: 10.1111/apa.13635. Acta Paediatr. 2017. PMID: 27748541
RESULTS: Each affected child in the two families was homozygous for a novel inherited variant in the SLC12A1gene, c.1614T>A. The variant predicts a change from a tyrosine codon to a stop codon (p.Tyr538Ter). ...
RESULTS: Each affected child in the two families was homozygous for a novel inherited variant in the SLC12A1gene, c.1614T>A. The variant …
A case of antenatal Bartter syndrome with sensorineural deafness.
Lee HS, Cheong HI, Ki CS. Lee HS, et al. J Pediatr Endocrinol Metab. 2010 Oct;23(10):1077-81. doi: 10.1515/jpem.2010.170. J Pediatr Endocrinol Metab. 2010. PMID: 21158220
This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with severe perinatal symptoms followed by a relatively benign course with preserved renal function after early infancy. In addition, the clin …
This report concerns a Korean male patient with antenatal Bartter syndrome due to a homozygous BSND p.G47R mutation, who presented with seve …
KCNJ1 inhibits tumor proliferation and metastasis and is a prognostic factor in clear cell renal cell carcinoma.
Guo Z, Liu J, Zhang L, Su B, Xing Y, He Q, Ci W, Li X, Zhou L. Guo Z, et al. Tumour Biol. 2015 Feb;36(2):1251-9. doi: 10.1007/s13277-014-2746-7. Epub 2014 Oct 26. Tumour Biol. 2015. PMID: 25344677
We found that KCNJ1 was low-expressed in ccRCC tissues samples and cell lines, and its expression level was significantly associated with tumor pathology grade (P = 0.002) and clinical stage (P = 0.023). Furthermore, the KCNJ1 expression was a prognostic factor of ccRCC pa …
We found that KCNJ1 was low-expressed in ccRCC tissues samples and cell lines, and its expression level was significantly associated with tu …
Reciprocal Regulation of MAGED2 and HIF-1α Augments Their Expression under Hypoxia: Role of cAMP and PKA Type II.
Seaayfan E, Nasrah S, Quell L, Radi A, Kleim M, Schermuly RT, Weber S, Laghmani K, Kömhoff M. Seaayfan E, et al. Cells. 2022 Oct 29;11(21):3424. doi: 10.3390/cells11213424. Cells. 2022. PMID: 36359819 Free PMC article.
In HEK293 and HeLa cells, MAGED2 knock-down impaired maximal induction of HIF-1alpha under physical hypoxia as evidenced by time-course experiments, which showed a signification reduction of HIF-1alpha upon MAGED2 depletion. ...
In HEK293 and HeLa cells, MAGED2 knock-down impaired maximal induction of HIF-1alpha under physical hypoxia as evidenced by time-course …
12 results