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| DXA scans of the lumbar spine and femoral neck. (A-D) Homozygous man (38 years); the Z-scores for lumbar spine (L1-L4) and femoral neck DXA were -3.0 and −1.9, respectively. The diagnosis by DXA was osteopenia. During the follow-up, the Z-scores for the lumbar spine (L1-L4) and femoral neck DXA were -3.3 and −2.2, respectively. (E-H) Homozygous woman (47 years). The T-scores for the lumbar spine (L1-L4) and femoral neck DXA were -2.6 and -1.7, respectively. The diagnosis by DXA was osteopenia. During the follow-up, the T-scores for the lumbar spine (L1-L4) and femoral neck DXA were -3.1 and −2.4, respectively.

| DXA scans of the lumbar spine and femoral neck. (A-D) Homozygous man (38 years); the Z-scores for lumbar spine (L1-L4) and femoral neck DXA were -3.0 and −1.9, respectively. The diagnosis by DXA was osteopenia. During the follow-up, the Z-scores for the lumbar spine (L1-L4) and femoral neck DXA were -3.3 and −2.2, respectively. (E-H) Homozygous woman (47 years). The T-scores for the lumbar spine (L1-L4) and femoral neck DXA were -2.6 and -1.7, respectively. The diagnosis by DXA was osteopenia. During the follow-up, the T-scores for the lumbar spine (L1-L4) and femoral neck DXA were -3.1 and −2.4, respectively.

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FIGURE 1 | DXA scans of the lumbar spine and femoral neck. (A-D)...
FIGURE 2 | The profile of bile acids (BAs) in the serum was...
FIGURE 3 | NTCP deficiency aggravated osteoporosis in OVX mice. (A)...
FIGURE 4 | Impacts of NTCP deficiency on osteogenesis and...
+1 FIGURE 5 | NTCP deficiency increased the levels of bile acids (BAs) in...
NTCP Deficiency Affects the Levels of Circulating Bile Acids and Induces Osteoporosis
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  • Jul 2022
Background The p.Ser267Phe mutation in the SLC10A1 gene can cause NTCP deficiency. However, the full clinical presentation of p.Ser267Phe homozygous individuals and its long-term consequences remain unclear. Hence, in the present study, we characterized the phenotypic characteristics of NTCP deficiency and evaluated its long-term prognosis.Methods...
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Context 1
... individuals with osteoporosis did not regularly use vitamin D and calcium tablet supplements and did not receive antiosteoporosis treatment. Five years later, the follow-up DXA scan showed a dramatic BMD decline in two homozygous individuals ( Figures 1A-H). However, the other homozygous individuals did not agree to repeat the BMD test. ...
Context 2
... to understand the phenotypic characteristics of NTCP deficiency, we generated and characterized NTCP deficient mice. The establishment of NTCP global knockout (KO) mice using CRISPR/Cas9 nickase technology is described in Figure S1. To assess the relationship between NTCP deficiency and osteoporosis, we used a classic approach to induce postmenopausal osteoporosis by constructing an ovariectomy (OVX)-induced osteopenic model (18). ...