Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
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Hormone response element binding proteins: novel regulators of vitamin D and estrogen signalingMutations in the vitamin D receptor and hereditary vitamin D-resistant rickets.Resistance to 1,25D-induced differentiation in human acute myeloid leukemia HL60-40AF cells is associated with reduced transcriptional activity and nuclear localization of the vitamin D receptor.Generation of ES cells for conditional expression of nuclear receptors and coregulators in vivo.Genetic disorders and defects in vitamin d action.A human vitamin D receptor mutant activated by cholecalciferol.Minireview: nuclear receptor regulation of osteoclast and bone remodeling.Positive association of vitamin D receptor gene variations with multiple sclerosis in South East Iranian populationThe role of vitamin D receptor mutations in the development of alopeciaTargeted ablation of the vitamin D receptor: an animal model of vitamin D-dependent rickets type II with alopecia.Inactivation of the human vitamin D receptor by caspase-3.Interaction of the vitamin D receptor with a vitamin D response element in the Mullerian-inhibiting substance (MIS) promoter: regulation of MIS expression by calcitriol in prostate cancer cells.Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy.Analysis of association of TaqI VDR gene polymorphism with the chronic periodontitis in Dravidian ethnicity.Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.Hypocalcemia in the critically ill patient.Renal rickets-practical approach.Allelic variations in coding regions of the vitamin D receptor gene in dairy cows and potential susceptibility to periparturient hypocalcaemia.A rationale for treatment of hereditary vitamin D-resistant rickets with analogs of 1 alpha,25-dihydroxyvitamin D(3).Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia.Alopecia in vitamin D-dependent rickets type II responding to 1α-hydroxycholecalciferol.Regulation of the vitamin D receptor by vitamin D lactam derivatives.Model of three-dimensional structure of vitamin D receptor and its binding mechanism with 1alpha,25-dihydroxyvitamin D(3).Abnormal behavioral organization of grooming in mice lacking the vitamin D receptor gene.Variation in the vitamin D receptor gene is associated with multiple sclerosis in an Australian population.Association of vitamin D receptor gene polymorphisms in Chinese patients with generalized aggressive periodontitis.
P2860
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P2860
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 1997
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Hereditary vitamin D resistant ...... d cellular hyporesponsiveness.
@en
Hereditary vitamin D resistant ...... d cellular hyporesponsiveness.
@nl
type
label
Hereditary vitamin D resistant ...... d cellular hyporesponsiveness.
@en
Hereditary vitamin D resistant ...... d cellular hyporesponsiveness.
@nl
prefLabel
Hereditary vitamin D resistant ...... d cellular hyporesponsiveness.
@en
Hereditary vitamin D resistant ...... d cellular hyporesponsiveness.
@nl
P2093
P2860
P356
P1476
Hereditary vitamin D resistant ...... d cellular hyporesponsiveness.
@en
P2093
L Van Maldergem
P J Malloy
R Bouillon
T R Eccleshall
P2860
P304
P356
10.1172/JCI119158
P407
P577
1997-01-01T00:00:00Z