scholarly journals Influence of Uridine Diphosphate Glucuronosyltransferase Family 1 Member A1 and Solute Carrier Organic Anion Transporter Family 1 Member B1 Polymorphisms and Efavirenz on Bilirubin Disposition in Healthy Volunteers

2019 ◽  
Vol 48 (3) ◽  
pp. 169-175
Author(s):  
Kimberly S. Collins ◽  
Ingrid F. Metzger ◽  
Brandon T. Gufford ◽  
Jessica B. Lu ◽  
Elizabeth B. Medeiros ◽  
...  
Keyword(s):  
Healthy Volunteers ◽  
Organic Anion ◽  
Organic Anion Transporter ◽  
Uridine Diphosphate ◽  
Uridine Diphosphate Glucuronosyltransferase ◽  
Anion Transporter ◽  
Transporter Family ◽  
Solute Carrier

Case of pachydermoperiostosis with solute carrier organic anion transporter family, member 2A1 (SLCO2A1) mutations

2015 ◽  
Vol 42 (9) ◽  
pp. 908-910 ◽  
Author(s):  
Satoko Minakawa ◽  
Takahide Kaneko ◽  
Hironori Niizeki ◽  
Hiroki Mizukami ◽  
Yoko Saito ◽  
...  
Keyword(s):  
Family Member ◽  
Organic Anion ◽  
Organic Anion Transporter ◽  
Anion Transporter ◽  
Transporter Family ◽  
Solute Carrier

scholarly journals Novel SLCO2A1 mutations cause gender-differentiated pachydermoperiostosis

2018 ◽  
Vol 7 (11) ◽  
pp. 1116-1128 ◽  
Author(s):  
Lijuan Yuan ◽  
Xihui Chen ◽  
Ziyu Liu ◽  
Dan Wu ◽  
Jianguo Lu ◽  
...  
Keyword(s):  
Organic Anion ◽  
Organic Anion Transporter ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Hypertrophic Osteoarthropathy ◽  
Anion Transporter ◽  
Transporter Family ◽  
Whole Exome ◽  
Solute Carrier ◽  
Reduced Penetrance

Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1, which involved in prostaglandin E2 metabolism. Here, we report 5 PHO patients from four non-consanguineous families. Two heterozygous mutations in solute carrier organic anion transporter family member 2A1 (SLCO2A1) were identified in two brothers by whole-exome sequencing. Three heterozygous mutations and one homozygous mutation were identified in other three PHO families by Sanger sequencing. However, there was no mutation in HPGD. These findings confirmed that homozygous or compound heterozygous mutations of SLCO2A1 were the pathogenic cause of PHO. A female individual shared the same mutations in SLCO2A1 with her PHO brother but did not have any typical PHO symptoms. The influence of sex hormones on the pathogenesis of PHO and its implication were discussed.

scholarly journals Solute Carrier Organic Anion Transporter Family Member 3A1 Is a Bile Acid Efflux Transporter in Cholestasis

2018 ◽  
Vol 155 (5) ◽  
pp. 1578-1592.e16 ◽  
Author(s):  
Qiong Pan ◽  
Xiaoxun Zhang ◽  
Liangjun Zhang ◽  
Ying Cheng ◽  
Nan Zhao ◽  
...  
Keyword(s):  
Bile Acid ◽  
Family Member ◽  
Organic Anion ◽  
Organic Anion Transporter ◽  
Efflux Transporter ◽  
Anion Transporter ◽  
Transporter Family ◽  
Solute Carrier
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