| [Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis]. | [Analysis of the characteristics of SPTB gene variants among 16 children with Hereditary spherocytosis].
Ge Y, Li J, Han Y, Xie H, Shangguan S, Jiang Q, Chen X, Liu R. | 03/2/2023 |
| [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene]. | [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of SPTB Gene].
Chen XL, Li JG, Men Q, Li X. | 02/14/2023 |
| Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population. | Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population.
Liu XD, Yang K, Xiao J, Huang H, Zhang XD, Huang JY. | 10/22/2022 |
| The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing. | The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.
Fan J, Yao L, Lu D, Yao Y, Sun Y, Tian Y, Mou L, Chen L, Zhao L, Qiao S, Hu S, Zhu Y. | 05/21/2022 |
| A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of beta-spectrin. | A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.
Li S, Guo P, Mi L, Chai X, Xi K, Liu T, Lu L, Li J. | 03/26/2022 |
| A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family. | A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
Zhao RQ, Jiang F, Li J, Zhou JY, Tang XW, Li FT, Chen LQ, Li DZ. | 02/5/2022 |
| A novel essential splice site variant in SPTB in a large hereditary spherocytosis family. | A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
Nieminen TT, Liyanarachchi S, Comiskey DF Jr, Wang Y, Li W, Hendrickson IV, Brock P, de la Chapelle A, He H., Free PMC Article | 01/22/2022 |
| Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis. | Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
Xie F, Lei L, Cai B, Gan L, Gao Y, Liu X, Zhou L, Jiang J., Free PMC Article | 12/11/2021 |
| SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant. | SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
Meglic A, Debeljak M, Kovac J, Trampus Bakija A, Rajic V, Kojc N, Trebusak Podkrajsek K. | 09/11/2021 |
| A clinical and experimental study of adult hereditary spherocytosis in the Chinese population. | A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
Xue J, He Q, Xie XJ, Su AL, Cao SB. | 07/17/2021 |
| Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia. | Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.
Ittiwut C, Natesirinilkul R, Tongprasert F, Sathitsamitphong L, Choed-Amphai C, Fanhchaksai K, Charoenkwan P, Suphapeetiporn K, Shotelersuk V. | 05/9/2020 |
| proband with Hereditary spherocytosis was found to carry a c.5798+1G>A variant of the SPTB gene | [Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].
Liu H, Huang J, Jiang Y, Guo L, Xiao H, Wang H. | 01/18/2020 |
| Study found that betaI spectrin was only weakly stained or lost in hepatocellular carcinoma (HCC) and cholangiocarcinoma (CC) cases while at least moderately stained in normal hepatocytes and all focal nodular hyperplasia (FNH) and hepatic adenoma (HA) cases. These findings suggest, for the first time, that betaI spectrins could be helpful in differentiating HCC from FNH or HA. | Utilization of spectrins βI and βIII in diagnosis of hepatocellular carcinoma.
Hu S, Jue D, Albanese J, Wang Y, Liu Q. | 11/2/2019 |
| These findings suggest that band 3 and spectrin are potential targets of autoantibodies that may be relevant for P. vivax malaria-associated anemia. | Anti-band 3 and anti-spectrin antibodies are increased in Plasmodium vivax infection and are associated with anemia.
Mourão LC, Baptista RP, de Almeida ZB, Grynberg P, Pucci MM, Castro-Gomes T, Fontes CJF, Rathore S, Sharma YD, da Silva-Pereira RA, Bemquerer MP, Braga ÉM., Free PMC Article | 10/26/2019 |
| Patient 4 had c.318delGExon3 mutation in the SPTB gene | [Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes].
Gong J, He XL, Zou RY, Chen KK, You YL, Zou H, Tian X, Zhu CG., Free PMC Article | 04/27/2019 |
| Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China. | Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China.
Meng LL, Yuan SM, Tu CF, Lin G, Lu GX, Tan YQ. | 01/26/2019 |
| two sex-specific loci(SPTB in females and IZUMO3 in males), yielding associations that were particularly strong at a specific skeletal site, were identified. | A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.
Chesi A, Mitchell JA, Kalkwarf HJ, Bradfield JP, Lappe JM, Cousminer DL, Roy SM, McCormack SE, Gilsanz V, Oberfield SE, Hakonarson H, Shepherd JA, Kelly A, Zemel BS, Grant SF., Free PMC Article | 03/24/2018 |
| Using Next-Generation sequencing, we identified the causative genetic mutations in fifteen patients with clinically suspected hereditary elliptocytosis and hereditary pyropoikilocytosis and correlated the identified mutations with the clinical phenotype and ektacytometry profile. | Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.
Niss O, Chonat S, Dagaonkar N, Almansoori MO, Kerr K, Rogers ZR, McGann PT, Quarmyne MO, Risinger M, Zhang K, Kalfa TA., Free PMC Article | 01/13/2018 |
| Targeted next generation sequencing identifies a novel beta-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis | Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.
Al-Riyami AZ, Iolascon A, Al-Zadjali S, Andolfo I, Al-Mammari S, Manna F, Al Rawas A, King MJ, Russo R. | 12/2/2017 |
| Mutational characteristics of ANK1 and SPTB genes in Korean hereditary spherocytosis have been described. | Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J, Jeong DC, Yoo J, Jang W, Chae H, Kim J, Kwon A, Choi H, Lee JW, Chung NG, Kim M, Kim Y. | 05/27/2017 |
| a new mutation in the SPTB gene (466insG) leading to a frameshift and a premature stop codon 29 codons downstream in the region encoding the C-terminal part of the dimerization domain; instability of mutant mRNA results in spectrin deficiency and clinically moderate to serious hereditary spherocytosis | A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis.
Bogusławska DM, Heger E, Machnicka B, Skulski M, Kuliczkowski K, Sikorski AF., Free PMC Article | 04/8/2017 |
| Variations in both alpha-spectrin (SPTA1) and beta-spectrin ( SPTB ) were found in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis. | Variations in both α-spectrin (SPTA1) and β-spectrin ( SPTB ) in a neonate with prolonged jaundice in a family where nine individuals had hereditary elliptocytosis.
Christensen RD, Nussenzveig RH, Reading NS, Agarwal AM, Prchal JT, Yaish HM. | 10/4/2014 |
| analysis of glycosylation of erythrocyte spectrin and its modification in visceral leishmaniasis | Glycosylation of erythrocyte spectrin and its modification in visceral leishmaniasis.
Samanta S, Dutta D, Ghoshal A, Mukhopadhyay S, Saha B, Sundar S, Jarmalavicius S, Forgber M, Mandal C, Walden P, Mandal C., Free PMC Article | 07/21/2012 |
| A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration. | Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
Martins-de-Souza D, Guest PC, Mann DM, Roeber S, Rahmoune H, Bauder C, Kretzschmar H, Volk B, Baborie A, Bahn S. | 04/26/2012 |
| Data postulate that direct interactions between spectrin ankBDn and PE-rich domains play an important role in stabilizing the structure of the spectrin-based membrane skeleton. | Key amino acid residues of ankyrin-sensitive phosphatidylethanolamine/phosphatidylcholine-lipid binding site of βI-spectrin.
Wolny M, Grzybek M, Bok E, Chorzalska A, Lenoir M, Czogalla A, Adamczyk K, Kolondra A, Diakowski W, Overduin M, Sikorski AF., Free PMC Article | 12/3/2011 |