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Sai Wang et al.
Frontiers in genetics, 11, 585064-585064 (2020-12-01)
Familial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants. However, there is growing evidence that some of these variants can be detrimental
Davide Firinu et al.
Clinical immunology (Orlando, Fla.), 147(2), 129-132 (2013-04-16)
Hereditary angioedema (HAE) due to C1 inhibitor (C1-INH) deficiency is an autosomal dominant disorder caused by mutations in SERPING1 gene. More than 200 different mutations are known, with high genetic heterogeneity and high frequency of private familial mutations. We analyzed
Sarit S Pattanaik et al.
Acta tropica, 123(2), 136-138 (2012-04-21)
Severe falciparum malaria is a major health problem in Odisha, India, contributing to high mortality. Multi organ dysfunction is a predominant manifestation of severe disease in Odisha, unlike in Africa, where cerebral malaria and anaemia are common. There are several
Yue Han et al.
Oncotarget, 8(60), 101614-101622 (2017-12-20)
Bartter syndrome (BS) has been rarely reported in Chinese population except for a few case reports. This investigation was aimed to analyze the mutations of the causal genes in sixteen Chinese patients with BS, and review their followup and treatment.
Ruixiao Zhang et al.
Renal failure, 42(1), 958-965 (2020-09-15)
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the α-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria or low-grade proteinuria, and continuously progressive renal failure are common
Zhimin Miao et al.
European journal of endocrinology, 161(2), 275-283 (2009-05-20)
Primary aldosteronism (PA) is the most common form of secondary hypertension, while Gitelman's syndrome (GS) is the most common inherited renal tubular disease. However, coexistence of these two diseases has never been previously reported. AIM AND SUBJECTS: The aim of
Umm-e-Kalsoom et al.
Human genetics, 131(3), 415-422 (2011-08-31)
Postaxial Polydactyly (PAP) is characterized by fifth digit duplication in hands and/or feet. Two types of PAP including PAP-A, representing the development of well-formed extra digit, and PAP-B, representing the presence of rudimentary fifth digit, have been described. Both isolated
Fuqiang Chen et al.
Bio-protocol, 7(15), e2432-e2432 (2017-08-05)
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and CRISPR-associated (Cas) systems function as an adaptive immune system in bacteria and archaea for defense against invading viruses and plasmids (Barrangou and Marraffini, 2014). The effector nucleases from some class 2 CRISPR-Cas
Bojlul Bahar et al.
BMC genetics, 9, 91-91 (2008-12-25)
Neuropeptide Y is a key neurotransmitter of the central nervous system which plays a vital role in the feed energy homeostasis in mammals. Mutations in the regulatory and coding regions of the bovine NPY gene can potentially affect the neuronal
Lifan Zhang et al.
International journal of biological sciences, 8(6), 838-858 (2012-06-30)
In the present study, a total of 91 genes involved in various pathways were investigated for their associations with six carcass traits and twenty-four fatty acid composition phenotypes in a Wagyu×Angus reference population, including 43 Wagyu bulls and their potential
Dilara Kaman et al.
Bosnian journal of basic medical sciences, 15(1), 9-13 (2015-03-01)
The cholesteryl ester transfer protein (CETP) plays a crucial role in high-density lipoprotein (HDL) metabolism. Genetic variants that alter CETP concentration may cause significant alterations in HDL-cholesterol (HDL-C) concentration. In this case-control study, we analyzed the genotype frequencies of CETP
Leping Shao et al.
American journal of nephrology, 28(6), 900-907 (2008-06-27)
Gitelman's syndrome is a mild autosomal recessive disorder caused by inactivating mutations of SLC12A3. However, severe phenotype may be associated with compound heterozygous nonfunctional variants such as frameshift and splicing mutations. Because most multi-exon genes are alternatively spliced as shown
Maria Paola Recalcati et al.
Gene, 502(1), 40-45 (2012-04-28)
We describe a 7-year-old boy with a complex rearrangement involving the whole short arm of chromosome 9 defined by means of molecular cytogenetic techniques. The rearrangement is characterized by a 18.3 Mb terminal deletion associated with the inverted duplication of
Alessandro Schipani et al.
Antiviral therapy, 17(5), 861-868 (2012-04-06)
The organic anion transporting polypeptides (OATP)/SLCO family represents an important class of hepatic drug uptake transporters that mediate the sodium independent transport of a diverse range of amphipathic organic compounds, including the protease inhibitors. The SLCO1B1 521T>C (rs4149056) single nucleotide
Paolo Colomba et al.
Clinical biochemistry, 45(10-11), 839-841 (2012-04-03)
Mutation analysis of the alpha-galactosidase A (GLA) gene is a valuable tool for the diagnosis of affected families. In our work, we analyze about one thousand samples per year from patients suspected of having Fabry disease (FD). We carried out
C Castellini et al.
Theriogenology, 78(4), 715-723 (2012-06-19)
There is increasing evidence that the particulate fraction of seminal plasma plays an important role in reproduction of several mammalian species. However, the origin and role of these granules in the physiology of rabbit spermatozoa is partially unknown. The aim
Dilara Kaman et al.
Cell biochemistry and function, 27(2), 88-92 (2009-02-20)
Paraoxonase 1 (PON 1) is a high-density lipoprotein (HDL)-associated enzyme with antioxidant function protecting low-density lipoprotein (LDL) from oxidation. PON 1 has two amino acid polymorphisms in coding region; L/M 55 and Q/R 192. These polymorphisms modulate paraoxonase activity of
Cui Wang et al.
Scientific reports, 6, 33652-33652 (2016-09-21)
Primary hyperoxaluria type 1 (PH1) is a rare genetic disease characterized by excessive oxalate accumulation in plasma and urine, resulting in various phenotypes because of allelic and clinical heterogeneity. This study aimed to detect disease-associated genetic mutations in three PH1
Xinsheng Wang et al.
American journal of nephrology, 42(1), 78-84 (2015-09-05)
Twenty-six HOGA1 mutations have been reported in primary hyperoxaluria (PH) type 3 (PH3) patients with c.700 + 5G>T accounting for about 50% of the total alleles. However, PH3 has never been described in Asians. A Chinese child with early-onset nephrolithiasis
Involvement of macrophage migration inhibitory factor in the pathogenesis of idiopathic orbital inflammatory pseudotumor
Zhao P, et al.
International Journal of Clinical and Experimental Pathology, 9(7), 6659-6671 (2016)
Leping Shao et al.
Nephron. Physiology, 108(3), p29-p36 (2008-02-22)
Inactivating mutations of the SLC12A3 gene are the most common cause of Gitelman's syndrome (GS), a disorder inherited as an autosomal recessive trait. In a minority of cases, GS-like phenotypes are caused by mutations in the CLCNKB gene. We searched
Xiangzhong Zhao et al.
Scientific reports, 6, 33920-33920 (2016-09-27)
Familial renal glycosuria (FRG) is caused by mutations in the SLC5A2 gene, which codes for Na+-glucose co-transporters 2 (SGLT2). The aim of this study was to analyze and identify the mutations in 16 patients from 8 families with FRG. All
Leping Shao et al.
American journal of nephrology, 35(6), 515-519 (2012-05-26)
Frequent studies have confirmed that homozygous or compound heterozygous loss-of-function mutation p.Thr60Met in NaCl cotransporter (NCC) lead to the salt-wasting Gitelman's syndrome (GS) of hypotension. The finding that Thr60 is a key SPAK/OSR1 phosphorylation site on NCC also raises the
Madoka Kuramitsu et al.
Blood, 119(10), 2376-2384 (2012-01-21)
Fifty percent of Diamond-Blackfan anemia (DBA) patients possess mutations in genes coding for ribosomal proteins (RPs). To identify new mutations, we investigated large deletions in the RP genes RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26. We developed
Leping Shao et al.
Endocrine, 37(3), 473-478 (2010-10-21)
Mutations in SLC4A1, encoding the chloride-bicarbonate exchanger AE1, cause distal renal tubular acidosis (dRTA), a disease of defective urinary acidification by the distal nephron. We searched for SLC4A1 gene mutations in six patients from a Chinese family with a severe
Saadullah Khan et al.
BMC medical genetics, 13, 44-44 (2012-06-14)
Natriuretic peptides (NPs) are peptide hormones that exert their biological actions by binding to three types of cell surface natriuretic peptide receptors (NPRs). The receptor NPR-B binding C-type natriuretic peptide (CNP) acts locally as a paracrine and/or autocrine regulator in
Yanxia Gao et al.
Renal failure, 36(8), 1226-1232 (2014-07-01)
The objective of this study is to identify ATP6V1B1, ATP6V0A4 and SLC4A1 genes mutations and assess audiologic characteristics in six Chinese children with primary distal renal tubular acidosis from four unrelated families between the ages of 2 and 13 years.
Anika Daing et al.
Journal of periodontal & implant science, 42(5), 151-157 (2012-11-28)
Cyclooxygenase (COX) enzyme catalyzes the production of prostaglandins, which are important mediators of tissue destruction in periodontitis. Single nucleotide polymorphisms of COX2 enzyme have been associated with increasing susceptibility to inflammatory diseases. The present study evaluates the association of two
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