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  1. Article ; Online: Aquaporin-1 Expression and Ultrafiltration of the Peritoneal Membrane.

    Bichet, Daniel G

    The New England journal of medicine

    2021  Volume 385, Issue 17, Page(s) 1617–1619

    MeSH term(s) Aquaporin 1/genetics ; Humans ; Membranes ; Peritoneal Dialysis ; Peritoneum ; Ultrafiltration
    Chemical Substances Aquaporin 1 (146410-94-8)
    Language English
    Publishing date 2021-10-18
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 207154-x
    ISSN 1533-4406 ; 0028-4793
    ISSN (online) 1533-4406
    ISSN 0028-4793
    DOI 10.1056/NEJMe2114645
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  2. Article ; Online: Genetic Testing and FOX News.

    Bockenhauer, Detlef / Bichet, Daniel G

    American journal of nephrology

    2022  Volume 53, Issue 4, Page(s) 249–252

    MeSH term(s) Genetic Testing ; Humans ; Kidney
    Language English
    Publishing date 2022-03-24
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 604540-6
    ISSN 1421-9670 ; 0250-8095
    ISSN (online) 1421-9670
    ISSN 0250-8095
    DOI 10.1159/000522227
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  3. Article ; Online: GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.

    Bichet, Daniel G

    European journal of endocrinology

    2020  Volume 183, Issue 2, Page(s) R29–R40

    Abstract: For an endocrinologist, nephrogenic diabetes insipidus (NDI) is an end-organ disease, that is the antidiuretic hormone, arginine-vasopressin (AVP) is normally produced but not recognized by the kidney with an inability to concentrate urine despite ... ...

    Abstract For an endocrinologist, nephrogenic diabetes insipidus (NDI) is an end-organ disease, that is the antidiuretic hormone, arginine-vasopressin (AVP) is normally produced but not recognized by the kidney with an inability to concentrate urine despite elevated plasma concentrations of AVP. Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. For a geneticist, hereditary NDI is a rare disease with a prevalence of five per million males secondary to loss of function of the vasopressin V2 receptor, an X-linked gene, or loss of function of the water channel AQP2. These are small genes, easily sequenced, with a number of both recurrent and private mutations described as disease causing. Other inherited disorders with mild, moderate or severe inability to concentrate urine include Bartter's syndrome and cystinosis. MAGED2 mutations are responsible for a transient form of Bartter's syndrome with severe polyhydramnios. The purpose of this review is to describe classical phenotype findings that will help physicians to identify early, before dehydration episodes with hypernatremia, patients with familial NDI. A number of patients are still diagnosed late with repeated dehydration episodes and large dilations of the urinary tract leading to a flow obstructive nephropathy with progressive deterioration of glomerular function. Families with ancestral X-linked AVPR2 mutations could be reconstructed and all female heterozygote patients identified with subsequent perinatal genetic testing to recognize affected males within 2 weeks of birth. Prevention of dehydration episodes is of critical importance in early life and beyond and decreasing solute intake will diminish total urine output.
    MeSH term(s) Dehydration/prevention & control ; Diabetes Insipidus, Nephrogenic/genetics ; Diabetes Insipidus, Nephrogenic/physiopathology ; Diabetes Insipidus, Nephrogenic/therapy ; Female ; Genetic Carrier Screening ; Genetic Diseases, X-Linked/genetics ; Genetic Testing ; Humans ; Hypernatremia ; Infant, Newborn ; Kidney Glomerulus/physiopathology ; Male ; Mutation ; Neurophysins/blood ; Neurophysins/physiology ; Osmolar Concentration ; Pregnancy ; Prenatal Diagnosis ; Protein Precursors/blood ; Protein Precursors/physiology ; Receptors, Vasopressin/genetics ; Receptors, Vasopressin/physiology ; Vasopressins/blood ; Vasopressins/physiology
    Chemical Substances AVP protein, human ; AVPR2 protein, human ; Neurophysins ; Protein Precursors ; Receptors, Vasopressin ; Vasopressins (11000-17-2)
    Language English
    Publishing date 2020-06-24
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1183856-5
    ISSN 1479-683X ; 0804-4643
    ISSN (online) 1479-683X
    ISSN 0804-4643
    DOI 10.1530/EJE-20-0114
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  4. Article ; Online: A "Set Point" for Water Homeostasis Disturbed with Altered Kidney Transplantation Outcome.

    Bichet, Daniel G

    Journal of the American Society of Nephrology : JASN

    2019  Volume 30, Issue 7, Page(s) 1141–1143

    MeSH term(s) Homeostasis ; Kidney Transplantation ; Osmoregulation ; Water-Electrolyte Balance
    Language English
    Publishing date 2019-06-19
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 1085942-1
    ISSN 1533-3450 ; 1046-6673
    ISSN (online) 1533-3450
    ISSN 1046-6673
    DOI 10.1681/ASN.2019050472
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  5. Article ; Online: Regulation of Thirst and Vasopressin Release.

    Bichet, Daniel G

    Annual review of physiology

    2019  Volume 81, Page(s) 359–373

    Abstract: Recent experiments using optogenetic tools facilitate the identification and functional analysis of thirst neurons and vasopressin-producing neurons. Four major advances provide a detailed anatomy and physiology of thirst, taste for water, and arginine- ... ...

    Abstract Recent experiments using optogenetic tools facilitate the identification and functional analysis of thirst neurons and vasopressin-producing neurons. Four major advances provide a detailed anatomy and physiology of thirst, taste for water, and arginine-vasopressin (AVP) release: ( a) Thirst and AVP release are regulated by the classical homeostatic, interosensory plasma osmolality negative feedback as well as by novel, exterosensory, anticipatory signals. These anticipatory signals for thirst and vasopressin release concentrate on the same homeostatic neurons and circumventricular organs that monitor the composition of blood. ( b) Acid-sensing taste receptor cells (TRCs) expressing otopetrin 1 on type III presynaptic TRCs on the tongue, which were previously suggested as the sour taste sensors, also mediate taste responses to water. ( c) Dehydration is aversive, and median preoptic nucleus (MnPO) neuron activity is proportional to the intensity of this aversive state. ( d) MnPO
    MeSH term(s) Animals ; Homeostasis/physiology ; Humans ; Neurons/physiology ; Thirst/physiology ; Vasopressins/physiology ; Water-Electrolyte Balance/physiology
    Chemical Substances Vasopressins (11000-17-2)
    Language English
    Publishing date 2019-02-11
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 207933-1
    ISSN 1545-1585 ; 0066-4278
    ISSN (online) 1545-1585
    ISSN 0066-4278
    DOI 10.1146/annurev-physiol-020518-114556
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  6. Article ; Online: Vasopressin and the Regulation of Thirst.

    Bichet, Daniel G

    Annals of nutrition & metabolism

    2018  Volume 72 Suppl 2, Page(s) 3–7

    Abstract: Recent experiments using optogenetic tools allow the identification and functional analysis of thirst neurons and vasopressin producing neurons. Two major advances provide a detailed anatomy of taste for water and arginine-vasopressin (AVP) release: (1) ... ...

    Abstract Recent experiments using optogenetic tools allow the identification and functional analysis of thirst neurons and vasopressin producing neurons. Two major advances provide a detailed anatomy of taste for water and arginine-vasopressin (AVP) release: (1) thirst and AVP release are regulated not only by the classical homeostatic, intero-sensory plasma osmolality negative feedback, but also by novel, extero-sensory, anticipatory signals. These anticipatory signals for thirst and vasopressin release converge on the same homeostatic neurons of circumventricular organs that monitor the composition of the blood; (2) acid-sensing taste receptor cells (which express polycystic kidney disease 2-like 1 protein) on the tongue that were previously suggested as the sour taste sensors also mediate taste responses to water. The tongue has a taste for water. The median preoptic nucleus (MnPO) of the hypothalamus could integrate multiple thirst-generating stimuli including cardiopulmonary signals, osmolality, angiotensin II, oropharyngeal and gastric signals, the latter possibly representing anticipatory signals. Dehydration is aversive and MnPO neuron activity is proportional to the intensity of this aversive state.
    MeSH term(s) Animals ; Arginine Vasopressin/physiology ; Dehydration ; Drinking/physiology ; Eating/physiology ; Homeostasis ; Humans ; Hypothalamus/physiology ; Neurons/physiology ; Taste ; Thirst/physiology
    Chemical Substances Arginine Vasopressin (113-79-1)
    Language English
    Publishing date 2018-06-20
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 392341-1
    ISSN 1421-9697 ; 0250-6807 ; 1018-9688
    ISSN (online) 1421-9697
    ISSN 0250-6807 ; 1018-9688
    DOI 10.1159/000488233
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  7. Article ; Online: What's in a name? That which we call diabetes does not taste sweet!

    Bockenhauer, Detlef / Knoers, Nine V A M / Bichet, Daniel G

    Pediatric nephrology (Berlin, Germany)

    2022  Volume 38, Issue 4, Page(s) 937–939

    MeSH term(s) Humans ; Diabetes Mellitus ; Terminology as Topic
    Language English
    Publishing date 2022-11-11
    Publishing country Germany
    Document type Editorial
    ZDB-ID 631932-4
    ISSN 1432-198X ; 0931-041X
    ISSN (online) 1432-198X
    ISSN 0931-041X
    DOI 10.1007/s00467-022-05815-8
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    Zs.A 2196: Show issues Location:
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  8. Article ; Online: β3-Adrenoreceptors in the thick ascending limb of Henle and in principal cells of the collecting duct work to concentrate urine.

    Bichet, Daniel G

    Kidney international

    2016  Volume 90, Issue 3, Page(s) 471–473

    Abstract: β3-Adrenoreceptors and their importance to increase sodium reabsorption in the thick ascending loop of Henle and to increase water reabsorption in principal cells of the collecting duct are, for the first time, described here. This is an integrated brain ...

    Abstract β3-Adrenoreceptors and their importance to increase sodium reabsorption in the thick ascending loop of Henle and to increase water reabsorption in principal cells of the collecting duct are, for the first time, described here. This is an integrated brain response to dehydration perceived by osmosensitive cells in the hypothalamus and triggering through vasopressin axonal and dendritic release a coordinated response implicating vasopressin V2 receptors and β3-adrenoreceptors on the luminal membrane of cortical collecting duct cells.
    MeSH term(s) Arginine Vasopressin ; Humans ; Kidney Tubules ; Kidney Tubules, Collecting ; Loop of Henle ; Receptors, Adrenergic, beta-3 ; Receptors, Vasopressin ; Vasopressins
    Chemical Substances Receptors, Adrenergic, beta-3 ; Receptors, Vasopressin ; Vasopressins (11000-17-2) ; Arginine Vasopressin (113-79-1)
    Language English
    Publishing date 2016-09
    Publishing country United States
    Document type Journal Article
    ZDB-ID 120573-0
    ISSN 1523-1755 ; 0085-2538
    ISSN (online) 1523-1755
    ISSN 0085-2538
    DOI 10.1016/j.kint.2016.04.013
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  9. Article ; Online: G protein-coupled receptor (GPCR) gene variants and human genetic disease.

    Thompson, Miles D / Percy, Maire E / Cole, David E C / Bichet, Daniel G / Hauser, Alexander S / Gorvin, Caroline M

    Critical reviews in clinical laboratory sciences

    2024  , Page(s) 1–30

    Abstract: Genetic variations in the genes encoding G protein-coupled receptors (GPCRs) can disrupt receptor ... variants disrupt ligand binding, G protein coupling, accessory protein function, receptor desensitization ...

    Abstract Genetic variations in the genes encoding G protein-coupled receptors (GPCRs) can disrupt receptor structure and function, which can result in human genetic diseases. Disease-causing mutations have been reported in at least 55 GPCRs for more than 66 monogenic diseases in humans. The spectrum of pathogenic and likely pathogenic variants includes loss of function variants that decrease receptor signaling on one extreme and gain of function that may result in biased signaling or constitutive activity, originally modeled on prototypical rhodopsin GPCR variants identified in retinitis pigmentosa, on the other. GPCR variants disrupt ligand binding, G protein coupling, accessory protein function, receptor desensitization and receptor recycling. Next generation sequencing has made it possible to identify variants of uncertain significance (VUS). We discuss variants in receptors known to result in disease and
    Language English
    Publishing date 2024-03-18
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 280641-1
    ISSN 1549-781X ; 1040-8363 ; 0590-8191
    ISSN (online) 1549-781X
    ISSN 1040-8363 ; 0590-8191
    DOI 10.1080/10408363.2023.2286606
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    Zs.A 771: Show issues Location:
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  10. Article ; Online: Vasopressin at Central Levels and Consequences of Dehydration.

    Bichet, Daniel G

    Annals of nutrition & metabolism

    2016  Volume 68 Suppl 2, Page(s) 19–23

    Abstract: Disorders of water balance are a common feature of clinical practice. An understanding of the physiology and pathophysiology of central vasopressin release and perception of thirst is the key to diagnosis and management of these disorders. Mammals are ... ...

    Abstract Disorders of water balance are a common feature of clinical practice. An understanding of the physiology and pathophysiology of central vasopressin release and perception of thirst is the key to diagnosis and management of these disorders. Mammals are osmoregulators; they have evolved mechanisms that maintain extracellular fluid osmolality near a stable value, and, in animal studies, osmoregulatory neurons express a truncated delta-N variant of the transient receptor potential vannilloid (TRPV1) channel involved in hypertonicity and thermal perception while systemic hypotonicity might be perceived by TRPV4 channels. Recent cellular and optogenetic animal experiments demonstrate that, in addition to the multifactorial process of excretion, circumventricular organ sensors reacting to osmotic pressure and angiotensin II, subserve genesis of thirst, volume regulation and behavioral effects of thirst avoidance.
    MeSH term(s) Animals ; Behavior ; Brain/cytology ; Brain/physiopathology ; Dehydration/complications ; Dehydration/physiopathology ; Humans ; Hypothalamus/cytology ; Hypothalamus/physiopathology ; Neurons/physiology ; Neurons/ultrastructure ; Neurosecretory Systems ; Osmolar Concentration ; Osmoregulation/physiology ; Perception ; Pituitary Gland, Posterior/cytology ; Pituitary Gland, Posterior/physiopathology ; TRPV Cation Channels ; Thirst/physiology ; Vasopressins/physiology ; Vasopressins/secretion ; Water Deprivation/physiology ; Water-Electrolyte Balance
    Chemical Substances TRPV Cation Channels ; TRPV1 protein, human ; Vasopressins (11000-17-2)
    Language English
    Publishing date 2016
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 392341-1
    ISSN 1421-9697 ; 0250-6807 ; 1018-9688
    ISSN (online) 1421-9697
    ISSN 0250-6807 ; 1018-9688
    DOI 10.1159/000446200
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