Bartter Syndrome (BS) is a gaggle of uncommon inherited autosome-recessive illness, which might be attributable to the gene mutations of sodium-potassium-chloride cotransporter gene (SLC12A1). Right here, the urine cells (UCs) derived from a 4-year-old feminine BS affected person with the homozygote SLC12A1 gene mutation p.
A244D (c.731C>A) had been reprogramming into induced pluripotent stem cells (iPSCs) named WMUi019-A utilizing a business Sendai virus reprogramming equipment. The pluripotent stem cell markers like OCT4 and SSEA4 might be positively expressed on this iPSC line, which will also be induced to distinguish into three germ layers in vitro and preserve a steady karyotype (46, XY).
A protracted-term examine of the consequences of SLC12A1 homozygous mutation (g.62382825G>A, p.Professional372Leu) in Japanese Black cattle
Recessive missense mutation within the solute provider household 12, member 1 (SLC12A1) gene (g.62382825G>A) is related to hydrallantois, which is the buildup of fluid within the allantoic cavity of a pregnant animal, and normally causes fetal demise in Japanese Black cattle.
Nevertheless, the signs of a homozygote with this mutation that don’t lead to fetal demise haven’t beforehand been tracked and evaluated. Within the current examine, we noticed a homozygote with the SLC12A1 threat allele over a long-term interval. The calf didn’t present any apparent scientific signs, though it did exhibit a slight development retardation that accompanied delicate calciuria.
At 28 months of age, the homozygote confirmed renal dysfunction, which in flip resulted in hydronephrosis. The time course of the signs was in keeping with the phenotype of Bartter syndrome in people. Moreover, the danger heterozygous genotype didn’t any results on carcass traits, which signifies that eliminating the danger allele wouldn’t have any unfavorable results.
Subsequently, we emphasize that each the fetal- and late-stage signs related to the SLC12A1 threat allele compromise animal welfare, and consequently might lead to extreme financial losses for particular person farmers if the SLC12A1 threat allele shouldn’t be eradicated from the inhabitants.
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome kind I.
4 affected people of consanguineous kindred introduced at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and untimely supply, culminating in extreme failure to thrive.
Hypercalciuria, nephrocalcinosis, and hyperaldosteronism had been additional obvious in addition to an uncommon discovering of intermittent hypernatremia. Moreover, all sufferers demonstrated variable micrognathia with higher respiratory airway abnormalities.
As neither postnatal hyperkalemia nor everlasting listening to deficits had been proven, scientific evaluation was in keeping with antenatal Bartter syndrome (ABS) kind I, which was by no means described earlier than within the Israeli Bedouin inhabitants.
By way of genome-wide linkage evaluation, we recognized a single ∼3.Three Mbp disease-associated locus on chromosome 15q21.1, segregating throughout the pedigree. Complete-exome sequencing revealed a single novel homozygous missense mutation inside this locus, in SLC12A1, encoding the Na-Ok-Cl cotransporter, NKCC2, in accordance with the scientific prognosis.
On this concise examine, we report a novel missense mutation throughout the SLC12A1 gene, inflicting a extreme type of ABS kind I, the primary to be described in Israeli Bedouins, with uncommon scientific options of hypernatremia attributable to nephrogenic diabetes insipidus and putatively associated micrognathia with higher airway abnormalities .
A missense mutation in solute provider household 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle.
Hydrallantois is the extreme accumulation of fluid throughout the allantoic cavity in pregnant animals and is related to fetal mortality. Though the incidence of hydrallantois could be very low in synthetic insemination breeding packages in cattle, not too long ago 38 cows with the phenotypic look of hydrallantois had been reported in a neighborhood subpopulation of Japanese Black cattle.
Of those, 33 had been traced again to the identical sire; nevertheless, each their dad and mom had been reported wholesome, suggesting that hydrallantois is a recessive inherited dysfunction. To determine autozygous chromosome segments shared by people with hydrallantois and the causative mutation in Japanese Black cattle, we carried out autozygosity mapping utilizing single-nucleotide polymorphism (SNP) array and exome sequencing.
Affiliation of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Major Hyperparathyroidism.
Major hyperparathyroidism with hypercalciuria has not been described within the new child interval.
Our aims are to determine the genetic foundation for neonatal major hyperparathyroidism in a household with 2 affected kids.
An African American boy presenting with delicate neonatal major hyperparathyroidism and hypercalciuria was evaluated at The Youngsters’s Hospital of Philadelphia. His older brother with neonatal major hyperparathyroidism had died in infancy of a number of organ failure.
We collected scientific and biochemical knowledge and carried out exome sequencing evaluation on DNA from the affected person and his unaffected mom after unfavorable genetic testing for identified causes of major hyperparathyroidism.
Exome sequencing adopted by Sanger sequencing disclosed 2 heterozygous mutations, c.1883C>A, p.(A628D) and c.2786_2787insC, p.(T931fsX10), within the SLC12A1 gene, which was beforehand implicated in antenatal kind 1 Bartter syndrome. Sanger sequencing confirmed the two mutations within the proband and his deceased brother; each dad and mom had been heterozygous for various mutations and an unaffected sister was homozygous for wild-type alleles.
These outcomes show a beforehand unrecognized affiliation between neonatal major hyperparathyroidism and mutation of SLC12A1, the reason for antenatal Bartter syndrome kind 1, and counsel that the lack of sodium-potassium-chloride cotransporter-2 cotransporter exercise influences parathyroid gland operate.
Therapy with an SLC12A1 antagonist inhibits tumorigenesis in a subset of hepatocellular carcinomas.
A central intention in most cancers analysis is to determine genes with altered expression patterns in tumor specimens and their potential position in tumorigenesis. Most sorts of tumors, together with hepatocellular carcinoma (HCC), are heterogeneous when it comes to genotype and phenotype.
Thus, conventional analytical strategies just like the t-test fail to determine all oncogenes from expression profiles. On this examine, we carried out a meta-Most cancers Outlier Profile Evaluation (meta-COPA) throughout six microarray datasets for HCC from the GEO database. We discovered that gene SLC12A1 was overexpressed within the Hep3B cell line, in contrast with 5 different HCC cell traces and L02 cells.
SLC12A1 Antibody |
|||
| 1-CSB-PA719331 | Cusabio |
|
|
|
Description: A polyclonal antibody against SLC12A1. Recognizes SLC12A1 from Human, Mouse, Rat. This antibody is Unconjugated. Tested in the following application: ELISA, WB, IHC;ELISA:1:1000-1:2000, WB:1:200-1:1000, IHC:1:25-1:100 |
|||
SLC12A1 Antibody |
|||
| GWB-BFFC29 | GenWay Biotech | 0.05 mg | Ask for price |
SLC12A1 Antibody |
|||
| MBS7124268-005mL | MyBiosource | 0.05mL | EUR 190 |
SLC12A1 Antibody |
|||
| MBS7124268-01mL | MyBiosource | 0.1mL | EUR 270 |
SLC12A1 Antibody |
|||
| MBS7124268-5x01mL | MyBiosource | 5x0.1mL | EUR 1205 |
SLC12A1 Antibody |
|||
| MBS9402557-01mL | MyBiosource | 0.1mL | EUR 305 |
SLC12A1 Antibody |
|||
| MBS9402557-5x01mL | MyBiosource | 5x0.1mL | EUR 1230 |
SLC12A1 Antibody |
|||
| MBS8503509-01mg | MyBiosource | 0.1mg | EUR 325 |
SLC12A1 Antibody |
|||
| MBS8503509-01mLAF405L | MyBiosource | 0.1mL(AF405L) | EUR 565 |
SLC12A1 Antibody |
|||
| MBS8503509-01mLAF405S | MyBiosource | 0.1mL(AF405S) | EUR 565 |
SLC12A1 Antibody |
|||
| MBS8503509-01mLAF610 | MyBiosource | 0.1mL(AF610) | EUR 565 |
SLC12A1 Antibody |
|||
| MBS8503509-01mLAF635 | MyBiosource | 0.1mL(AF635) | EUR 565 |
SLC12A1 Rabbit pAb |
|||
| A12999-100ul | Abclonal | 100 ul | EUR 369.6 |
SLC12A1 Rabbit pAb |
|||
| A12999-200ul | Abclonal | 200 ul | EUR 550.8 |
SLC12A1 Rabbit pAb |
|||
| A12999-20ul | Abclonal | 20 ul | EUR 219.6 |
SLC12A1 Rabbit pAb |
|||
| A12999-50ul | Abclonal | 50 ul | EUR 267.6 |
SLC12A1 Rabbit pAb |
|||
| E2121227 | EnoGene | 100ul | EUR 225 |
|
Description: Available in various conjugation types. |
|||
SLC12A1 Rabbit mAb |
|||
| E2R25160 | EnoGene | 100ul | EUR 255 |
|
Description: Available in various conjugation types. |
|||
SLC12A1 Rabbit pAb |
|||
| E2512999 | EnoGene | 100ul | EUR 225 |
|
Description: Available in various conjugation types. |
|||
SLC12A1 Rabbit mAb |
|||
| 52463 | SAB | 100ul | EUR 499 |
SLC12A1 cDNA Clone |
|||
| MBS1274641-001mgPlasmid02mLGlycerolStock | MyBiosource | 0.01mgPlasmid+0.2mLGlycerol-Stock | EUR 200 |
SLC12A1 cDNA Clone |
|||
| MBS1274641-5x001mgPlasmid5x02mLGlycerolStock | MyBiosource | 5x0.01mgPlasmid+5x0.2mLGlycerol-Stock | EUR 855 |
We additionally discovered that the upregulation of SLC12A1 was mediated by histone methylation inside its promoter area, and that SLC12A1 is a optimistic regulator of the WNK1/ERK5 pathway. In keeping with in vitro outcomes, remedy with the SLC12A1 antagonist Bumetanide delayed tumor formation and diminished Hep3B cell tumor measurement in mouse xenografts. In abstract, our analysis reveals a novel subset of HCCs which are delicate to SLC12A1 antagonist remedy, thereby providing a brand new technique for precision HCC remedy.
