Pulmonary epithelial barrier function: some new players and mechanisms
K Brune, J Frank, A Schwingshackl… - … of Physiology-Lung …, 2015 - journals.physiology.org
The pulmonary epithelium serves as a barrier to prevent access of the inspired luminal
contents to the subepithelium. In addition, the epithelium dictates the initial responses of the …
contents to the subepithelium. In addition, the epithelium dictates the initial responses of the …
Hypocalcemic disorders
E Bove-Fenderson, M Mannstadt - Best Practice & Research Clinical …, 2018 - Elsevier
Calcium is vital for life, and extracellular calcium concentrations must constantly be
maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs …
maintained within a precise concentration range. Low serum calcium (hypocalcemia) occurs …
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations
P Sikora, M Zaniew, L Haisch, B Pulcer… - Nephrology Dialysis …, 2015 - academic.oup.com
Background Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC)
is a rare autosomal recessive tubular disorder exhibiting a high risk for progressive chronic …
is a rare autosomal recessive tubular disorder exhibiting a high risk for progressive chronic …
[PDF][PDF] Mechanisms of cataractogenesis in the presence of magnesium deficiency
R Agarwal, IN Iezhitsa, P Agarwal… - Magnesium …, 2013 - researchgate.net
Senile cataract is the most common cause of bilateral blindness and results from the loss of
transparency of the lens. Maintenance of the unique tissue architecture of the lens is vital for …
transparency of the lens. Maintenance of the unique tissue architecture of the lens is vital for …
Ocular manifestations of the genetic renal tubulopathies
Background The genetic tubulopathies are rare and heterogenous disorders that are often
difficult to identify. This study examined the tubulopathy-causing genes for ocular …
difficult to identify. This study examined the tubulopathy-causing genes for ocular …
Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report
PM Yamaguti, PAC dos Santos, BS Leal… - BMC nephrology, 2015 - Springer
Background Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare
autosomal recessive renal disease characterized by tubular disorders at the thick ascending …
autosomal recessive renal disease characterized by tubular disorders at the thick ascending …
Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC): Report of three cases with a Novel Mutation in: CLDN19: Gene
A Al-Shibli, M Konrad, W Altay, O Al Masri… - Saudi Journal of …, 2013 - journals.lww.com
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare
autosomal recessive disorder that is caused by mutation in the genes coding for tight …
autosomal recessive disorder that is caused by mutation in the genes coding for tight …
Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a …
J Lu, X Zhao, A Paiardini, Y Lang, I Bottillo, L Shao - BMC nephrology, 2018 - Springer
Background Sixty mutations of claudin 16 coding gene have been reported in familial
hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent …
hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) patients. Recent …
A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family
F Lv, X Xu, J Wang, Y Liu, Y Jiang, O Wang, W Xia… - Clinica Chimica …, 2016 - Elsevier
Background Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC)
is a rare autosomal recessively inherited disease characterized by excessive wasting of …
is a rare autosomal recessively inherited disease characterized by excessive wasting of …
Genetic determinants of extracellular magnesium concentration: Analysis of multiple candidate genes, and evidence for association with the estrogen receptor α …
BACKGROUND: Serum magnesium concentration is a quantitative trait with substantial
heritability. Although the pool of candidate genes continues to grow, only the …
heritability. Although the pool of candidate genes continues to grow, only the …