Mutation-in-Brief A Novel Deletion Mutation of the Arginine Vasopressin Receptor 2 Gene in a Japanese Infant with Nephrogenic Diabetes Insipidus

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus

Tsukaguchi, Hiroyasu
Matsubara, Hiroaki
Inada, Mitsuo

August 1995

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic ...

Misfolded vasopressin v-2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus

Postina, Rolf
Ufer, E.
Pfeiffer, R.
Knoers, Nvam.
Fahrenholz, Falk

January 2000

Vasopressin V-2 receptor mutants from three different patients with congenital nephrogenic diabetes ...

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients

Chen, CH
Chen, WY
Liu, HL
Liu, TT
Tsou, AP
Lin, CY
Chao, T
Qi, Y
Hsiao, KJ

January 2002

Congenital nephrogenic diabetes insipidus (NDI) is. in most instances, a rare X-linked recessive ren...

Original A Novel Mutation of the Arginine Vasopressin Receptor 2 Gene in a Patient with Congenital Nephrogenic

Diabetes Insipidus
Asako Tajima
Ichiro Miyata
Akira Katayama
Shigeru Toyoda
Yoshikatsu Eto

August 2016

Abstract. We have identified a novel mutation of the arginine vasopressin receptor 2 (AVPR2) gene in...

Aquaporin 2 mutations in nephrogenic diabetes insipidus.

Loonen, A.J.M.
Knoers, N.V.A.M.
Os, C.H. van
Deen, P.M.T.

January 2008

Item does not contain fulltextWater reabsorption in the renal collecting duct is regulated by the an...

Case Report A novel disease-causing mutation in AVPR2: Q96H

Mathieu Lemaire
David Chitayat
Denis F. Geary
Daniel G. Bichet
Christoph Licht

August 2015

A4-month-oldmale infantwas diagnosedwith nephrogenic diabetes insipidus (NDI). Genetic testing of th...

Characterization of Three Vasopressin Receptor 2 Variants: An Apparent Polymorphism (V266A) and Two Loss-of-Function Mutations (R181C and M311V)

Stephen P. Armstrong
Ruth M. Seeber
Mohammed Akli Ayoub
Brian J. Feldman
Kevin D. G. Pfleger

August 2016

Arginine vasopressin (AVP) is released from the posterior pituitary and controls water homeostasis. ...

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus

Wildin, Robert S.
Cogdell, David E.
Valadez, Victoria

December 1998

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.BackgroundThe ...

Functional Characterization Of Avpr2 Mutants Found In Turkish Patients With Nephrogenic Diabetes Insipidus

Erdem, Beril
Schulz, Angela
Saglar, Emel
Deniz, Ferhat
Schöneberg, Torsten
Mergen, Hatice

January 2017

Diabetes insipidus is a rare disorder characterized by an impairment in water balance because of the...

Novel mutation in the AVPR2 gene in a Danish male with nephrogenic diabetes insipidus caused by ER retention and subsequent lysosomal degradation of the mutant receptor

Nejsum, L.N.
Christensen, T.M.
Robben, J.H.
Milligan, G.
Deen, P.M.T.
Bichet, D.G.
Levin, K.

January 2011

Item does not contain fulltextMutations in the arginine vasopressin receptor 2 (AVPR2) gene can caus...

Congenital nephrogenic diabetes insipidus: the current state of affairs

Wesche, Daniel
Deen, Peter M T
Knoers, Nine V A M

December 2012

The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia...

Congenital nephrogenic diabetes insipidus:the current state of affairs

Wesche, Daniel
Deen, Peter M T
Knoers, Nine V A M

December 2012

The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia...

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

Rosenthal, W.
Seibold, A.
Antaramian, A.
Lonergan, M.
Arthus, M.F.
Hendy, G.N.
Birnbaumer, M.
Bichet, D.G.

September 1992

Antidiuretic hormone (arginine vasopressin) binds to and activates V2 receptors in renal collecting ...

Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus

Faerch, Mia
Christensen, Jane H
Rittig, Soren
Johansson, Jan-Ove
Gregersen, Niels
de Zegher, Francis
Corydon, Thomas J

December 2009

Faerch M, Christensen JH, Rittig S, Johansson J-O, Gregersen N, de Zegher F, Corydon TJ. Diverse vas...

Mutation-in-Brief A Novel V2 Vasopressin Receptor Mutation with X-Linked

Nephrogenic Diabetes Insipidus
Takayuki Okamoto
Norio Kobayashi
Hiroyuki Naito
Toshihiro Tajima

August 2016

Congenital nephrogenic diabetes insipidus (NDI) is caused by at least two different genes: the V2 re...

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus

Tsukaguchi, Hiroyasu
Matsubara, Hiroaki
Inada, Mitsuo

August 1995

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic ...

Misfolded vasopressin v-2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus

Postina, Rolf
Ufer, E.
Pfeiffer, R.
Knoers, Nvam.
Fahrenholz, Falk

January 2000

Vasopressin V-2 receptor mutants from three different patients with congenital nephrogenic diabetes ...

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients

Chen, CH
Chen, WY
Liu, HL
Liu, TT
Tsou, AP
Lin, CY
Chao, T
Qi, Y
Hsiao, KJ

January 2002

Congenital nephrogenic diabetes insipidus (NDI) is. in most instances, a rare X-linked recessive ren...

Original A Novel Mutation of the Arginine Vasopressin Receptor 2 Gene in a Patient with Congenital Nephrogenic

Diabetes Insipidus
Asako Tajima
Ichiro Miyata
Akira Katayama
Shigeru Toyoda
Yoshikatsu Eto

August 2016

Abstract. We have identified a novel mutation of the arginine vasopressin receptor 2 (AVPR2) gene in...

Aquaporin 2 mutations in nephrogenic diabetes insipidus.

Loonen, A.J.M.
Knoers, N.V.A.M.
Os, C.H. van
Deen, P.M.T.

January 2008

Item does not contain fulltextWater reabsorption in the renal collecting duct is regulated by the an...

Case Report A novel disease-causing mutation in AVPR2: Q96H

Mathieu Lemaire
David Chitayat
Denis F. Geary
Daniel G. Bichet
Christoph Licht

August 2015

A4-month-oldmale infantwas diagnosedwith nephrogenic diabetes insipidus (NDI). Genetic testing of th...

Characterization of Three Vasopressin Receptor 2 Variants: An Apparent Polymorphism (V266A) and Two Loss-of-Function Mutations (R181C and M311V)

Stephen P. Armstrong
Ruth M. Seeber
Mohammed Akli Ayoub
Brian J. Feldman
Kevin D. G. Pfleger

August 2016

Arginine vasopressin (AVP) is released from the posterior pituitary and controls water homeostasis. ...

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus

Wildin, Robert S.
Cogdell, David E.
Valadez, Victoria

December 1998

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.BackgroundThe ...

Functional Characterization Of Avpr2 Mutants Found In Turkish Patients With Nephrogenic Diabetes Insipidus

Erdem, Beril
Schulz, Angela
Saglar, Emel
Deniz, Ferhat
Schöneberg, Torsten
Mergen, Hatice

January 2017

Diabetes insipidus is a rare disorder characterized by an impairment in water balance because of the...

Novel mutation in the AVPR2 gene in a Danish male with nephrogenic diabetes insipidus caused by ER retention and subsequent lysosomal degradation of the mutant receptor

Nejsum, L.N.
Christensen, T.M.
Robben, J.H.
Milligan, G.
Deen, P.M.T.
Bichet, D.G.
Levin, K.

January 2011

Item does not contain fulltextMutations in the arginine vasopressin receptor 2 (AVPR2) gene can caus...

Congenital nephrogenic diabetes insipidus: the current state of affairs

Wesche, Daniel
Deen, Peter M T
Knoers, Nine V A M

December 2012

The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia...

Congenital nephrogenic diabetes insipidus:the current state of affairs

Wesche, Daniel
Deen, Peter M T
Knoers, Nine V A M

December 2012

The anti-diuretic hormone arginine vasopressin (AVP) is released from the pituitary upon hypovolemia...

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

Rosenthal, W.
Seibold, A.
Antaramian, A.
Lonergan, M.
Arthus, M.F.
Hendy, G.N.
Birnbaumer, M.
Bichet, D.G.

September 1992

Antidiuretic hormone (arginine vasopressin) binds to and activates V2 receptors in renal collecting ...

Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus

Faerch, Mia
Christensen, Jane H
Rittig, Soren
Johansson, Jan-Ove
Gregersen, Niels
de Zegher, Francis
Corydon, Thomas J

December 2009

Faerch M, Christensen JH, Rittig S, Johansson J-O, Gregersen N, de Zegher F, Corydon TJ. Diverse vas...

Mutation-in-Brief A Novel V2 Vasopressin Receptor Mutation with X-Linked

Nephrogenic Diabetes Insipidus
Takayuki Okamoto
Norio Kobayashi
Hiroyuki Naito
Toshihiro Tajima

August 2016

Congenital nephrogenic diabetes insipidus (NDI) is caused by at least two different genes: the V2 re...

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic diabetes insipidus

Tsukaguchi, Hiroyasu
Matsubara, Hiroaki
Inada, Mitsuo

August 1995

Expression studies of two vasopressin V2 receptor gene mutations, R202C and 804insG, in nephrogenic ...

Misfolded vasopressin v-2 receptors caused by extracellular point mutations entail congential nephrogenic diabetes insipidus

Postina, Rolf
Ufer, E.
Pfeiffer, R.
Knoers, Nvam.
Fahrenholz, Falk

January 2000

Vasopressin V-2 receptor mutants from three different patients with congenital nephrogenic diabetes ...

Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients

Chen, CH
Chen, WY
Liu, HL
Liu, TT
Tsou, AP
Lin, CY
Chao, T
Qi, Y
Hsiao, KJ

January 2002

Congenital nephrogenic diabetes insipidus (NDI) is. in most instances, a rare X-linked recessive ren...

Mutation-in-Brief A Novel Deletion Mutation of the Arginine Vasopressin Receptor 2 Gene in a Japanese Infant with Nephrogenic Diabetes Insipidus

Abstract

Extracted data

Mutation-in-Brief A Novel Deletion Mutation of the Arginine Vasopressin Receptor 2 Gene in a Japanese Infant with Nephrogenic Diabetes Insipidus

Abstract

Extracted data

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