CYP3A4 mutation causes vitamin D–dependent rickets type 3

CYP3A4 mutation causes vitamin D-dependent rickets type 3

Genetic forms of vitamin D-dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor ...

CYP3A4 mutation causes vitamin D–dependent rickets type 3 - PMC

Genetic forms of vitamin D–dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor ...

CYP3A4 mutation causes vitamin D–dependent rickets type 3 - JCI

CYP3A4 mutation causes vitamin D–dependent rickets type 3 ... Citation Information: J Clin Invest. 2018;128(5):1913-1918. https://doi.org/10.1172/ ...

CYP3A4 Mutation Causes Vitamin D-Dependent Rickets Type 3

CYP3A4 Mutation Causes Vitamin D-Dependent Rickets Type 3: A Case Report in Saudi Arabia · Discussion. This is the first case reported in Saudi ...

CYP3A4 mutation causes vitamin D-dependent rickets type 3

Genetic forms of vitamin D-dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor responsiveness.

CYP3A4 mutation causes vitamin D–dependent rickets type 3 - JCI

CYP3A4 (p.I301T) mutant has increased vitamin D degradative activity but decreased activity for other substrates. Options: View larger image (or ...

CYP3A4 mutation causes vitamin D–dependent - ProQuest

CYP3A4 mutation causes vitamin D–dependent rickets type 3 ... You might have access to the full article... Try and log in through your institution to see if they ...

(PDF) CYP3A4 mutation causes Vitamin D-dependent rickets type 3

Vitamin D-dependent rickets type 3 (VDDR3) is due to increased inactivation of 1,25(OH) 2 D caused by a gain-of-function mutation in a gene ...

CYP3A4 mutation causes vitamin D-dependent rickets type 3 - ORA

Genetic forms of vitamin D-dependent rickets (VDDRs) are due to mutations impairing activation of vitamin D or decreasing vitamin D receptor ...

Is an Uncommon Genetic Mutation Linked to Vitamin D-dependent ...

Researchers identified a genetic mutation in CYP3A4 that is linked to vitamin D-dependent rickets (VDDR), a childhood disorder associated with ...

(PDF) CYP3A4 Mutation Causes Vitamin D-Dependent Rickets Type 3

I301T) in the gene encoding CYP3A4 has been identified as a cause of excessive inactivation of vitamin D metabolites that causes vitamin D- ...

5.3 CYP3A4 mutation causes vitamin D-dependent rickets type 3

This gain-of-function mutation in CYP3A4 leads to vitamin D deficiency through accelerated vitamin D metabolite inactivation. The authors named this dominant ...

619073 - VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3 - OMIM

A number sign (#) is used with this entry because of evidence that vitamin D-dependent rickets-3 (VDDR3) is caused by heterozygous mutation in ...

CYP3A4 mutation causes Vitamin D-dependent rickets type 3

As CYP3A4 mutations have not previously been linked to rickets, these findings provide insight into vitamin D metabolism and demonstrate that ...

CYP3A4 mutation causes vitamin D-dependent rickets type 3 - PlumX

CYP3A4 mutation causes vitamin D-dependent rickets type 3 · Metrics Details · Article Description · Bibliographic Details · Provide Feedback.

Diagnosis and Management of Vitamin D Dependent Rickets

A secondary pathway for inactivation of vitamin D metabolites is provided by CYP3A4, which is highly expressed in liver and small intestine and which can ...

CYP3A4 Mutation Causes Vitamin D-Dependent Rickets Type 3

CYP3A4 Mutation Causes Vitamin D-Dependent Rickets Type 3: A Case Report in Saudi Arabia. https://doi.org/10.7759/cureus.49976. Journal: Cureus, 2023.

Vitamin D-Dependent Rickets, Type 3 (VDDR3) - MalaCards

Vitamin D-dependent rickets, type 3 (VDDR3) is an autosomal dominant disorder characterized by early-onset rickets. Patients with VDDR3 exhibit reduced serum ...

CYP4A22 loss-of-function causes a new type of vitamin D ...

Vitamin D–dependent rickets (VDDR) is a group of genetic disorders characterized by early-onset rickets due to deficiency of active vitamin D or a failure to ...

Interplay of Vitamin D and CYP3A4 Polymorphisms in Endocrine ...

Recent research revealed that patients with rickets had a decline in serum vitamin D metabolites due to CYP3A4 mutations; in particular, the ...