SLC34A3 antibody - middle region (ARP31567_P050)
- Known as:
- SLC34A3 (anti-) - middle region (ARP31567_P050)
- Catalog number:
- arp31567_p050
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- SLC34A3 antibody - middle region (ARP31567_P050)
Related genes to: SLC34A3 antibody - middle region (ARP31567_P050)
- Gene:
- SLC34A3 NIH gene
- Name:
- solute carrier family 34 member 3
- Previous symbol:
- -
- Synonyms:
- NPTIIc, FLJ38680
- Chromosome:
- 9q34.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-08-08
- Date modifiied:
- 2016-02-17
Related products to: SLC34A3 antibody - middle region (ARP31567_P050)
Related articles to: SLC34A3 antibody - middle region (ARP31567_P050)
- Kidney stones are common and can arise from many etiologies including genetic and environmental. Biallelic pathogenic variants in the solute carrier family 34-member 3 (SLC34A3) gene cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH), while both monallaelic and biallelic pathogenic variants in SLC3A1 cause cystinuria. Here, we report the clinical phenotype of a patient with concomitant biallelic and monoallelic pathogenic variants in SLC34A3 and SLC3A1 respectively. - Source: PubMed
Publication date: 2026/03/18
Olarewaju Bukola ASabrowsky SoniaShurrab ShaymaaMoyer Ann MKeddis Mira TOsundiji Mayowa A - Medullary sponge kidney (MSK) is characterized by precalyceal dilatation of the renal tubules. This entity is associated with recurrent kidney stone disease (KSD). Although etiopathogenesis is unknown, genetic origin is suspected. - Source: PubMed
Publication date: 2026/03/06
Tournebize CorentinRobert ThomasAbid NadiaDe Mul AurélieSchleef MaximeLefevre FloraDubourg LaurenceDancer MarineLetavernier EmmanuelLemoine Sandrine - BACKGROUNDKidney stone disease (KSD) affects approximately 10% of the population. While genetic factors are known to play a role in KSD, determining the clinical relevance of rare variants in KSD genes identified in adults remains challenging.METHODSThe Swiss Kidney Stone Cohort is a multicenter longitudinal, observational study consisting of kidney stone formers (KSFs) (n = 701) and non-kidney stone formers (NKSFs) (n = 200). Blood and urine samples were collected at enrollment and over 3 years for deep biochemical phenotyping. Results were correlated with rare genetic variants in established KSD genes identified through whole-exome sequencing and classified according to American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG/AMP) criteria.RESULTSCollectively, we found rare (likely) pathogenic (LP/P) variants representing strong KSD risk factors in 6.8% of KSFs, predominantly in genes involved in renal phosphate handling and cystinuria. Detailed biochemical analyses confirmed that KSFs carrying heterozygous LP/P SLC34A3 variants exhibited significant hyperphosphaturia. In contrast, monoallelic LP/P variants in SLC34A1, SLC9A3R1, or CYP24A1, which were also frequent in NKSFs, did not result in the expected biochemical alterations, calling into question their causative role as strong KSD risk factors. In cystinuria, monoallelic SLC7A9 variants represented intermediate risk factors, since they caused biochemical alterations but required additional factors for KSD occurrence, based on frequent LP/P variants in NKSFs. The presence of strong risk factors was associated with higher kidney stone (KS) recurrence over the 3-year observation period, supporting a predictive value for genetic testing.CONCLUSIONSCorrelation of genetic findings with thorough biochemical phenotyping and comparison with NKSFs redefines the clinical relevance of variants in KSD genes and has prognostic value. - Source: PubMed
Publication date: 2026/03/02
Münch JohannesPetrovska JanaFigueiro-Silva JoanaRubio-Aliaga IsabelCabello Elena MIvanovski IvanPapik MichaelOneda BeatriceFuster Daniel GSeeger HaraldErnandez ThomasBuchkremer FlorianWuerzner GregoireDhayat Nasser ARitter AlexanderSegerer StephanRoth BeatRauch AnitaFerraro Pietro ManuelBonny OlivierWagner Carsten ABachmann-Gagescu Ruxandra - Seventy 28-day-old weaned barrow piglets (Duroc × Landrace × Large White; 7.2 ± 0.20 kg) were used to determine the effects of 25-hydroxyvitamin D (25-OH-VD) combined with phytase and probiotics on calcium and phosphorus metabolism and bone development. Five dietary groups were tested: basal diet + 50 µg/kg 25-OH-VD (CON); basal diet with 17% reduced calcium and phosphorus + 50 µg/kg 25-OH-VD (LCP); LCP + 50 mg/kg phytase (LH); LCP + 10 mg/kg probiotics (LC); LCP + 50 mg/kg phytase + 10 mg/kg probiotics (LHC). The experiment lasted for 31 days, including 3 days adaptation period. Apparent phosphorus digestibility was higher in the LH and LHC groups than in the CON group ( < 0.05). Bone mineral density and calcium content in metacarpal and rib bones were also higher in the LHC group compared with the CON, LCP, LC, and LH groups ( < 0.05). The jejunal mRNA expression of solute carrier family 34 members (SLC34A1, SLC34A2, and SLC34A3) members was higher in the LHC group than the CON, LCP, LC, and LH groups ( < 0.05), while the relative protein expression of the calcium-sensing receptor in the kidneys was lower in the CON group than in the LCP, LH, LC, and LHC groups ( < 0.05). Additionally, supplementation with 25-OH-VD, either alone or in combination with phytase and probiotics, was associated with an increased abundance of beneficial gut bacteria. Overall, combined supplementation of 25-OH-VD, phytase and probiotics enhanced bone development in weaned piglets fed a low-calcium, low-phosphorus diet by improving calcium and phosphorus utilization and calcium-phosphorus metabolic regulation. - Source: PubMed
Publication date: 2026/01/16
Shi BaoshiGong SaimingWang ZhenyangWang JingjingShui CunjiTang ZhiruPeng XieXu YetongSun Zhihong - Pregnancy- and lactation-associated osteoporosis (PLO) describes a fragility fracture presentation around pregnancy/lactation. Presentation often includes multiple vertebral fractures, but can also involve hip, sacral/pelvic, or other fractures. Substantial bone structural deficits and low bone formation rate have been documented. Most have no known secondary cause. Many have a history of childhood fracture and/or family history of osteoporosis. These characteristics, together with early onset and disease severity, lead to the hypothesis that genetic factors may contribute to PLO. We enrolled 110 women with PLO (mean #fractures = 6, vertebral fractures in 88 %) in an exome sequencing (ES) study. Analyses identified rare (<1 % allele frequency in gnomAD) predicted deleterious variants (RPDV) in 33/110 (30 %) women. All were heterozygous; two participants had multiple RPDV. No RPDV in COL1A1/COL1A2 were identified. 28/110 (25 %) had RPDV in genes related to WNT signaling, critical to bone formation: LRP5 (n = 19), LRP6 (n = 6), WNT1 (n = 2) or WNT1&LRP5 (n = 1). Seven had RPDV related to renal/calcium handling (SLC34A1, SLC34A3, SLC9A3), or other osteoporosis mechanisms (PLS3 (n = 3), HGD (n = 1)). Those with RPDV did not differ from those without in terms of BMD, fracture characteristics, and most clinical characteristics. Among 110 PLO women, exome sequencing analyses identified a potential genetic osteoporosis contribution in 30 %, suggesting that many genetic contributors to PLO have yet to be elucidated. The finding of variants related to WNT signaling in 25 % of the cohort is consistent with the predominantly low bone formation phenotype of PLO and may have implications for prognosis and treatment response. - Source: PubMed
Publication date: 2025/11/30
Lynch LaurenShea Patrick RVena NatalieChung Wendy KShane ElizabethKamanda-Kosseh MafoBarry JordanEl-Najjar DanyAgarwal SanchitaKondapalli AnanyaColon IvelisseBucovsky MarianaCohen Adi