Results 131 to 140 of about 2,467 (196)

A sibling with Dent disease without mutations of OCRL1 and CLCN5

Nihon Shoni Jinzobyo Gakkai Zasshi, 2011
Takahisa Kimata, Masahumi Hasui, Miyoko Yamasita, Kazunari Kaneko, Kandai Nozu, Kazumoto Iijima   +5 more
openaire   +2 more sources

Coexisting genetic kidney disease explains many cases of 'familial' IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits. [PDF]

Front Med (Lausanne)
Li Y, Zhang J, Yin ZJ, Zhou Z, Huang B, Mahmood K, Colville D, Barit D, Auwardt R, Fassett R, Paizis K, Ierino F, Pianta T, Langsford D, Huang M, Savige J.   +15 more
europepmc   +1 more source

Early and mid-embryonic upregulation of chloride, calcium, and sodium transporter genes mark functional maturation of the chorioallantoic membrane in broiler embryos. [PDF]

Front Physiol
Amaz SA, Poudel S, Jha R, Mishra B.
europepmc   +1 more source

Dent disease: clinical practice recommendations. [PDF]

Nephrol Dial Transplant
Bökenkamp A, Ariceta G, Böckenhauer D, Devuyst O, Emma F, van Bennekom D, Levtchenko E, Sayer J, Servais A, Vargas R, Zaniew M, Prikhodina L.   +11 more
europepmc   +1 more source

Dent disease: Same CLCN5 mutation but different phenotypes in two brothers in China.

Intractable & rare diseases research
Dent disease is an X-linked recessive proximal tubular disorder that affects mostly male patients in childhood or early adult life, caused by mutations in CLCN5 (Dent disease 1) or OCRL (Dent disease 2) genes, respectively. It presents mainly with hypercalciuria, low-molecular-weight proteinuria, nephrocalcinosis and progressive renal failure.
Hongwen, Zhang, Fang, Wang, Huijie, Xiao, Yong, Yao   +3 more
openaire   +1 more source

The inositol 1,4,5-trisphosphate receptor type 2 protein domains regulate calcium levels and Ion transport gene expression in laying ducks' uterus. [PDF]

Poult Sci
Zhao Y, Tan G, Fu H, Ding Y, Guo X, Zhang Y.   +5 more
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Gene therapy of Dent disease type 1 in newborn ClC-5 null mice for sustained transgene expression and gene therapy effects. [PDF]

Gene Ther
Lyu P, Yadav MK, Yoo KW, Jiang C, Li Q, Atala A, Lu B.   +6 more
europepmc   +1 more source

Clinical and genetic characteristics of Dent's disease type 1 in Europe [PDF]

, 2023
Fenoglio, Roberta
core  

Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report. [PDF]

Case Rep Nephrol Dial
Ambarsari CG, Agianda HAP, Saraswati M, Kim JJ.   +3 more
europepmc   +1 more source