A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

H Yagi; K Ozono; H Miyake; K Nagashima; T Kuroume; J W Pike

doi:10.1210/jcem.76.2.8381803

A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.76.2.8381803 ◽

1993 ◽

Vol 76 (2) ◽

pp. 509-512

Author(s):

H Yagi ◽

K Ozono ◽

H Miyake ◽

K Nagashima ◽

T Kuroume ◽

...

Keyword(s):

Vitamin D ◽

Point Mutation ◽

Vitamin D Receptor ◽

Deoxyribonucleic Acid ◽

Binding Domain ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

A new point mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor in a kindred with hereditary 1,25-dihydroxyvitamin D- resistant rickets

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.76.2.509 ◽

1993 ◽

Vol 76 (2) ◽

pp. 509-512 ◽

Cited By ~ 16

Author(s):

H. Yagi

Keyword(s):

Vitamin D ◽

Point Mutation ◽

Vitamin D Receptor ◽

Deoxyribonucleic Acid ◽

Binding Domain ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.81.7.8675579 ◽

1996 ◽

Vol 81 (7) ◽

pp. 2564-2569 ◽

Cited By ~ 1

Author(s):

N U Lin ◽

P J Malloy ◽

N Sakati ◽

A al-Ashwal ◽

D Feldman

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Deoxyribonucleic Acid ◽

Novel Mutation ◽

Binding Domain ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

A novel mutation in the deoxyribonucleic acid-binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.81.7.2564 ◽

1996 ◽

Vol 81 (7) ◽

pp. 2564-2569 ◽

Cited By ~ 17

Author(s):

N. U. Lin

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Deoxyribonucleic Acid ◽

Novel Mutation ◽

Binding Domain ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

A Unique Insertion/Substitution in Helix H1 of the Vitamin D Receptor Ligand Binding Domain in a Patient With Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

Journal of Bone and Mineral Research ◽

10.1359/jbmr.2004.19.6.1018 ◽

2004 ◽

Vol 19 (6) ◽

pp. 1018-1024 ◽

Cited By ~ 36

Author(s):

Peter J Malloy ◽

Rong Xu ◽

Andreina Cattani ◽

M Loreto Reyes ◽

David Feldman

Keyword(s):

Vitamin D ◽

Ligand Binding ◽

Vitamin D Receptor ◽

Binding Domain ◽

Ligand Binding Domain ◽

Receptor Ligand ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain.

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.78.2.8106618 ◽

1994 ◽

Vol 78 (2) ◽

pp. 313-316

Author(s):

P J Malloy ◽

Y Weisman ◽

D Feldman

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Deoxyribonucleic Acid ◽

Binding Domain ◽

Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

Hereditary 1 alpha,25-dihydroxyvitamin D-resistant rickets resulting from a mutation in the vitamin D receptor deoxyribonucleic acid-binding domain

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.78.2.313 ◽

1994 ◽

Vol 78 (2) ◽

pp. 313-316 ◽

Cited By ~ 14

Author(s):

P. J. Malloy

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Deoxyribonucleic Acid ◽

Binding Domain ◽

Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2009.09.004 ◽

2010 ◽

Vol 99 (1) ◽

pp. 72-79 ◽

Cited By ~ 33

Author(s):

Peter J. Malloy ◽

Jining Wang ◽

Tarak Srivastava ◽

David Feldman

Keyword(s):

Vitamin D ◽

Dna Binding ◽

Missense Mutation ◽

Vitamin D Receptor ◽

Binding Domain ◽

Dna Binding Domain ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets

Molecular Genetics and Metabolism ◽

10.1016/s1096-7192(02)00173-7 ◽

2002 ◽

Vol 77 (4) ◽

pp. 314-318 ◽

Cited By ~ 28

Author(s):

Peter J Malloy ◽

Wenjing Zhu ◽

Roger Bouillon ◽

David Feldman

Keyword(s):

Vitamin D ◽

Ligand Binding ◽

Vitamin D Receptor ◽

Nonsense Mutation ◽

Binding Domain ◽

Ligand Binding Domain ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2013.10.014 ◽

2014 ◽

Vol 111 (1) ◽

pp. 33-40 ◽

Cited By ~ 38

Author(s):

Peter J. Malloy ◽

Velibor Tasic ◽

Doris Taha ◽

Filiz Tütüncüler ◽

Goh Siok Ying ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text

Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem.2010.136 ◽

2010 ◽

Vol 23 (8) ◽

Cited By ~ 24

Author(s):

Nikta Forghani ◽

Catherine Lum ◽

Sowmya Krishnan ◽

Jining Wang ◽

Darrel M. Wilson ◽

...

Keyword(s):

Vitamin D ◽

Vitamin D Receptor ◽

Nonsense Mutation ◽

Receptor Gene ◽

Vitamin D Receptor Gene ◽

Dihydroxyvitamin D ◽

1,25 Dihydroxyvitamin D ◽

Resistant Rickets

Download Full-text