Interactions of the choroid, Bruch's membrane, retinal pigment epithelium, and neurosensory retina collaborate to form the outer blood-retinal-barrier
MA Fields, LV Del Priore, RA Adelman… - Progress in retinal and …, 2020 - Elsevier
The three interacting components of the outer blood-retinal barrier are the retinal pigment
epithelium (RPE), choriocapillaris, and Bruch's membrane, the extracellular matrix that lies …
epithelium (RPE), choriocapillaris, and Bruch's membrane, the extracellular matrix that lies …
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 …
[HTML][HTML] Claudins in renal physiology and pathology
C Prot-Bertoye, P Houillier - Genes, 2020 - mdpi.com
Claudins are integral proteins expressed at the tight junctions of epithelial and endothelial
cells. In the mammalian kidney, every tubular segment express a specific set of claudins that …
cells. In the mammalian kidney, every tubular segment express a specific set of claudins that …
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics
F Claverie-Martin - Clinical kidney journal, 2015 - academic.oup.com
Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an
autosomal-recessive renal tubular disorder characterized by excessive urinary losses of …
autosomal-recessive renal tubular disorder characterized by excessive urinary losses of …
[HTML][HTML] Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function
Mutations of claudin-19 cause Familial Hypomagnesaemia and Hypercalciuria,
Nephrocalcinosis with Ocular Involvement. To study the ocular disease without the …
Nephrocalcinosis with Ocular Involvement. To study the ocular disease without the …
[HTML][HTML] Novel Compound Heterozygous Variations in MPDZ Gene Caused Isolated Bilateral Macular Coloboma in a Chinese Family
S Zhang, F Zhang, J Wang, S Yang, Y Ren, X Rui… - Cells, 2022 - mdpi.com
Macular coloboma (MC) is a rare congenital retinochoroidal defect characterized by lesions
of different sizes in the macular region. The pathological mechanism underlying congenital …
of different sizes in the macular region. The pathological mechanism underlying congenital …
Claudins regulate gene and protein expression of the retinal pigment epithelium independent of their association with tight junctions
F Liu, T Xu, S Peng, RA Adelman, LJ Rizzolo - Experimental Eye Research, 2020 - Elsevier
Claudin-19 is the major claudin in the tight junctions of the retinal pigment epithelium (RPE).
Claudin-3 is also uniformly expressed albeit in lesser amounts. Besides modulating …
Claudin-3 is also uniformly expressed albeit in lesser amounts. Besides modulating …
Heterogeneity is a common ground in familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN19 gene mutations
M Vall-Palomar, C Burballa, F Claverie-Martín… - Journal of …, 2021 - Springer
Background Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC)
is a rare tubulopathy caused by mutations in the CLDN16 or CLDN19 genes. Patients …
is a rare tubulopathy caused by mutations in the CLDN16 or CLDN19 genes. Patients …
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 …
CLDN16 基因突变致家族性低镁血症高钙尿症与肾钙质沉着症1 例报告并文献复习
林娇， 冯春月， 毛建华 - 临床儿科杂志, 2020 - jcp.xinhuamed.com.cn
目的探讨家族性低镁血症高钙尿症和肾钙质沉着症(FHHNC) 的临床特征和致病基因特点.
方法分析1 例2 月龄FHHNC 女性患儿的临床资料. 结果患儿血镁低, 尿钙高; …
方法分析1 例2 月龄FHHNC 女性患儿的临床资料. 结果患儿血镁低, 尿钙高; …