ABCB4 Antibody
- Known as:
- ABCB4 Antibody
- Catalog number:
- GWB-MN930C
- Product Quantity:
- 50ug
- Category:
- -
- Supplier:
- GenWay
- Gene target:
- ABCB4 Antibody
Related genes to: ABCB4 Antibody
- Gene:
- ABCB4 NIH gene
- Name:
- ATP binding cassette subfamily B member 4
- Previous symbol:
- PGY3, MDR3
- Synonyms:
- MDR2, PFIC-3, GBD1
- Chromosome:
- 7q21.12
- Locus Type:
- gene with protein product
- Date approved:
- 1988-05-11
- Date modifiied:
- 2016-10-05
Related products to: ABCB4 Antibody
Related articles to: ABCB4 Antibody
- Low phospholipid-associated cholelithiasis (LPAC) syndrome is a rare inherited disorder caused by mutations with heterogeneous manifestations. We describe two LPAC cases in a mother-son pair, detailing their clinical presentations, diagnostic evaluations, and management. A novel frameshift variant (c.715_716insTT; p.Ser239PhefsTer9) was identified, expanding the genetic spectrum of LPAC syndrome. - Source: PubMed
Publication date: 2026/10/02
Yang Hui-MingLiu JunZhang Zheng - Wilson disease (WD) is difficult to diagnose in children because it can mimic other pediatric liver diseases. It lacks specific routine histologic features. Recent studies suggest that metallothionein (MT) immunohistochemistry (IHC) may aid diagnosis, but pediatric data remain limited. This is a retrospective study of 121 pediatric liver biopsies, including WD ( = 63), primary sclerosing cholangitis ( = 23), metabolic dysfunction-associated steatotic liver disease ( = 19), autoimmune hepatitis ( = 13), and multidrug resistance protein 3 deficiency ( = 3). MT IHC was assessed for extent, intensity, pattern, and distribution. MT positivity was identified in 96.8% of WD cases compared with 73.9% of PSC, 38.5% of AIH, and 10.5% of MASLD cases ( < 0.001). In WD, MT IHC characteristically demonstrated diffuse non-zonal cytoplasmic staining involving ≥25% of hepatocytes, most frequently >50%, with moderate-to-strong intensity. A threshold of ≥25% positive hepatocytes achieved the highest overall diagnostic accuracy (87.6%), with 80.9% sensitivity and 94.8% specificity. Diffuse non-zonal staining demonstrated 100% specificity in this cohort. MT IHC is a sensitive adjunctive marker for pediatric WD. Interpretation of staining extent, intensity, and distribution improves diagnostic specificity and assists in distinguishing WD from histologic mimics and cholestatic disorders. - Source: PubMed
Publication date: 2026/09/09
Abuquteish DuaGarcia GeraldineRoberts Eve ASiddiqui Iram - Low-phospholipid-associated cholelithiasis (LPAC) syndrome is mainly associated with ABCB4 variants, although up to half of cases remain genetically unexplained. Given the role of CFTR in biliary homeostasis and its involvement in CFTR-related pancreatobiliary disorders, we investigated whether CFTR variants may contribute to LPAC phenotypes. We conducted a monocentric study including 34 patients fulfilling LPAC diagnostic criteria who underwent whole-exome sequencing with analysis restricted to an extended hepatobiliary gene panel including CFTR. Variants of interest were identified in 14/34 patients (41%), including 4 ABCB4 variant carriers (12%) and 10 CFTR variant carriers (29%). Patients carrying CFTR variants presented with classical LPAC features, including cholelithiasis, recurrent biliary symptoms, and cholangitis, while pancreatic involvement was observed in half of carriers. Compared with the CFTR carrier frequency estimated from the French newborn screening program (∼2.6%), CFTR variant carriers were significantly enriched in the cohort (11.5-fold enrichment, 95% CI 5.9-18.6, p < 0.001), suggesting a contributory role in a subset of LPAC phenotypes. These findings support consideration of CFTR in the genetic evaluation of selected patients with LPAC and reinforce the concept of hepatobiliary transporter disorders as a phenotypic continuum extending beyond ABCB4 deficiency. - Source: PubMed
Publication date: 2026/09/25
Giannetti CamilleCarmarans LouisBourgeois PatriceGerolami RenéBorentain PatrickLorenzo DianeHoibian SoleneFabre AlexandreBadens CatherineBuffat Christophe - The antibiotic toxicity and risks associated with their residues pose a serious threat to food safety. - Source: PubMed
Publication date: 2026/09/19
Yu ZheDing Qian-WenHao QiangYao Yuan-YuanRan ChaoYang Ya-LinZhang ZhenZhou Zhi-Gang - Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive disorders characterized by impaired bile formation and secretion, frequently progressing to cirrhosis and end-stage liver disease. This study characterized the genotypic and phenotypic spectrum of PFIC in a pediatric cohort. - Source: PubMed
Publication date: 2026/09/17
Abdel Gawad ManalMahfouz AmlAbdel-Hadi MonaMastor HebaElbanna Basant