questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Transferases
Glycosyltransferase
Pentosyltransferases
ADP ribose transferases
ADP ribose transferases : Questions médicales fréquentes
Termes MeSH sélectionnés :
Gain of Function Mutation
{
"@context": "https://schema.org",
"@graph": [
{
"@type": "MedicalWebPage",
"name": "ADP ribose transferases : Questions médicales les plus fréquentes",
"headline": "ADP ribose transferases : Comprendre les symptômes, diagnostics et traitements",
"description": "Guide complet et accessible sur les ADP ribose transferases : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.",
"datePublished": "2024-01-30",
"dateModified": "2025-04-24",
"inLanguage": "fr",
"medicalAudience": [
{
"@type": "MedicalAudience",
"name": "Grand public",
"audienceType": "Patient",
"healthCondition": {
"@type": "MedicalCondition",
"name": "ADP ribose transferases"
},
"suggestedMinAge": 18,
"suggestedGender": "unisex"
},
{
"@type": "MedicalAudience",
"name": "Médecins",
"audienceType": "Physician",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "France"
}
},
{
"@type": "MedicalAudience",
"name": "Chercheurs",
"audienceType": "Researcher",
"geographicArea": {
"@type": "AdministrativeArea",
"name": "International"
}
}
],
"reviewedBy": {
"@type": "Person",
"name": "Dr Olivier Menir",
"jobTitle": "Expert en Médecine",
"description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale",
"url": "/static/pages/docteur-olivier-menir.html",
"alumniOf": {
"@type": "EducationalOrganization",
"name": "Université Paris Descartes"
}
},
"isPartOf": {
"@type": "MedicalWebPage",
"name": "Pentosyltransferases",
"url": "https://questionsmedicales.fr/mesh/D010430",
"about": {
"@type": "MedicalCondition",
"name": "Pentosyltransferases",
"code": {
"@type": "MedicalCode",
"code": "D010430",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D08.811.913.400.725"
}
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "NAD nucleosidase",
"alternateName": "NAD+ Nucleosidase",
"url": "https://questionsmedicales.fr/mesh/D009244",
"about": {
"@type": "MedicalCondition",
"name": "NAD nucleosidase",
"code": {
"@type": "MedicalCode",
"code": "D009244",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D08.811.913.400.725.115.660"
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "ADP-ribosyl cyclase",
"alternateName": "ADP-ribosyl Cyclase",
"url": "https://questionsmedicales.fr/mesh/D036541",
"about": {
"@type": "MedicalCondition",
"name": "ADP-ribosyl cyclase",
"code": {
"@type": "MedicalCode",
"code": "D036541",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D08.811.913.400.725.115.660.060"
}
}
}
]
},
{
"@type": "MedicalWebPage",
"name": "Poly(ADP-ribose) polymerases",
"alternateName": "Poly(ADP-ribose) Polymerases",
"url": "https://questionsmedicales.fr/mesh/D011065",
"about": {
"@type": "MedicalCondition",
"name": "Poly(ADP-ribose) polymerases",
"code": {
"@type": "MedicalCode",
"code": "D011065",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D08.811.913.400.725.115.690"
}
},
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Poly (ADP-Ribose) polymerase-1",
"alternateName": "Poly (ADP-Ribose) Polymerase-1",
"url": "https://questionsmedicales.fr/mesh/D000071137",
"about": {
"@type": "MedicalCondition",
"name": "Poly (ADP-Ribose) polymerase-1",
"code": {
"@type": "MedicalCode",
"code": "D000071137",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D08.811.913.400.725.115.690.420"
}
}
},
{
"@type": "MedicalWebPage",
"name": "Tankyrases",
"alternateName": "Tankyrases",
"url": "https://questionsmedicales.fr/mesh/D038501",
"about": {
"@type": "MedicalCondition",
"name": "Tankyrases",
"code": {
"@type": "MedicalCode",
"code": "D038501",
"codingSystem": "MeSH"
},
"identifier": {
"@type": "PropertyValue",
"propertyID": "MeSH Tree",
"value": "D08.811.913.400.725.115.690.840"
}
}
}
]
}
],
"about": {
"@type": "MedicalCondition",
"name": "ADP ribose transferases",
"alternateName": "ADP Ribose Transferases",
"code": {
"@type": "MedicalCode",
"code": "D036002",
"codingSystem": "MeSH"
}
},
"author": [
{
"@type": "Person",
"name": "Anthony K L Leung",
"url": "https://questionsmedicales.fr/author/Anthony%20K%20L%20Leung",
"affiliation": {
"@type": "Organization",
"name": "Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA."
}
},
{
"@type": "Person",
"name": "Morgan Dasovich",
"url": "https://questionsmedicales.fr/author/Morgan%20Dasovich",
"affiliation": {
"@type": "Organization",
"name": "Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA."
}
},
{
"@type": "Person",
"name": "Mohsen Badiee",
"url": "https://questionsmedicales.fr/author/Mohsen%20Badiee",
"affiliation": {
"@type": "Organization",
"name": "Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205."
}
},
{
"@type": "Person",
"name": "Yong Zhang",
"url": "https://questionsmedicales.fr/author/Yong%20Zhang",
"affiliation": {
"@type": "Organization",
"name": "Department of Pharmacology and Pharmaceutical Sciences, School of Pharmacy, University of Southern California, Los Angeles, California 90089, United States."
}
},
{
"@type": "Person",
"name": "Sua Myong",
"url": "https://questionsmedicales.fr/author/Sua%20Myong",
"affiliation": {
"@type": "Organization",
"name": "Program in Cell, Molecular, Developmental Biology, and Biophysics, Johns Hopkins University, Baltimore, Maryland 21218, United States."
}
}
],
"citation": [
{
"@type": "ScholarlyArticle",
"name": "Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.",
"datePublished": "2023-02-08",
"url": "https://questionsmedicales.fr/article/36758835",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1016/j.jaci.2023.01.023"
}
},
{
"@type": "ScholarlyArticle",
"name": "Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation.",
"datePublished": "2022-05-21",
"url": "https://questionsmedicales.fr/article/35596857",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1007/s10875-022-01288-4"
}
},
{
"@type": "ScholarlyArticle",
"name": "Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure.",
"datePublished": "2022-07-06",
"url": "https://questionsmedicales.fr/article/35794153",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1038/s41467-022-31686-6"
}
},
{
"@type": "ScholarlyArticle",
"name": "Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.",
"datePublished": "2023-05-01",
"url": "https://questionsmedicales.fr/article/37122211",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.1098/rstb.2022.0165"
}
},
{
"@type": "ScholarlyArticle",
"name": "Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells.",
"datePublished": "2023-03-10",
"url": "https://questionsmedicales.fr/article/36971438",
"identifier": {
"@type": "PropertyValue",
"propertyID": "DOI",
"value": "10.3791/64558"
}
}
],
"breadcrumb": {
"@type": "BreadcrumbList",
"itemListElement": [
{
"@type": "ListItem",
"position": 1,
"name": "questionsmedicales.fr",
"item": "https://questionsmedicales.fr"
},
{
"@type": "ListItem",
"position": 2,
"name": "Enzymes et coenzymes",
"item": "https://questionsmedicales.fr/mesh/D045762"
},
{
"@type": "ListItem",
"position": 3,
"name": "Enzymes",
"item": "https://questionsmedicales.fr/mesh/D004798"
},
{
"@type": "ListItem",
"position": 4,
"name": "Transferases",
"item": "https://questionsmedicales.fr/mesh/D014166"
},
{
"@type": "ListItem",
"position": 5,
"name": "Glycosyltransferase",
"item": "https://questionsmedicales.fr/mesh/D016695"
},
{
"@type": "ListItem",
"position": 6,
"name": "Pentosyltransferases",
"item": "https://questionsmedicales.fr/mesh/D010430"
},
{
"@type": "ListItem",
"position": 7,
"name": "ADP ribose transferases",
"item": "https://questionsmedicales.fr/mesh/D036002"
}
]
}
},
{
"@type": "MedicalWebPage",
"name": "Article complet : ADP ribose transferases - Questions et réponses",
"headline": "Questions et réponses médicales fréquentes sur ADP ribose transferases",
"description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.",
"datePublished": "2025-05-04",
"inLanguage": "fr",
"hasPart": [
{
"@type": "MedicalWebPage",
"name": "Diagnostic",
"headline": "Diagnostic sur ADP ribose transferases",
"description": "Comment diagnostiquer une dysfonction des ADP ribose transferases ?\nQuels marqueurs biochimiques sont associés aux ADP ribose transferases ?\nY a-t-il des tests spécifiques pour les ADP ribose transferases ?\nQuels symptômes peuvent indiquer un problème avec ces enzymes ?\nLes tests d'imagerie sont-ils utiles pour ces enzymes ?",
"url": "https://questionsmedicales.fr/mesh/D036002?mesh_terms=Gain+of+Function+Mutation&page=2#section-diagnostic"
},
{
"@type": "MedicalWebPage",
"name": "Symptômes",
"headline": "Symptômes sur ADP ribose transferases",
"description": "Quels symptômes sont liés à une déficience en ADP ribose transferases ?\nPeut-on observer des symptômes neurologiques ?\nLes symptômes varient-ils selon le type d'enzyme ?\nY a-t-il des symptômes cutanés associés ?\nLes symptômes sont-ils toujours présents ?",
"url": "https://questionsmedicales.fr/mesh/D036002?mesh_terms=Gain+of+Function+Mutation&page=2#section-symptômes"
},
{
"@type": "MedicalWebPage",
"name": "Prévention",
"headline": "Prévention sur ADP ribose transferases",
"description": "Peut-on prévenir les dysfonctionnements des ADP ribose transferases ?\nY a-t-il des facteurs environnementaux à éviter ?\nLes dépistages réguliers sont-ils recommandés ?\nL'exercice physique aide-t-il à prévenir ces dysfonctionnements ?\nLes vaccinations ont-elles un rôle préventif ?",
"url": "https://questionsmedicales.fr/mesh/D036002?mesh_terms=Gain+of+Function+Mutation&page=2#section-prévention"
},
{
"@type": "MedicalWebPage",
"name": "Traitements",
"headline": "Traitements sur ADP ribose transferases",
"description": "Quels traitements existent pour les dysfonctionnements enzymatiques ?\nLes suppléments peuvent-ils aider ?\nY a-t-il des traitements expérimentaux ?\nLes traitements sont-ils personnalisés ?\nLes traitements sont-ils curatifs ?",
"url": "https://questionsmedicales.fr/mesh/D036002?mesh_terms=Gain+of+Function+Mutation&page=2#section-traitements"
},
{
"@type": "MedicalWebPage",
"name": "Complications",
"headline": "Complications sur ADP ribose transferases",
"description": "Quelles complications peuvent survenir avec ces dysfonctionnements ?\nLes complications sont-elles réversibles ?\nY a-t-il un risque accru de maladies cardiovasculaires ?\nLes complications affectent-elles la qualité de vie ?\nLes complications sont-elles prévisibles ?",
"url": "https://questionsmedicales.fr/mesh/D036002?mesh_terms=Gain+of+Function+Mutation&page=2#section-complications"
},
{
"@type": "MedicalWebPage",
"name": "Facteurs de risque",
"headline": "Facteurs de risque sur ADP ribose transferases",
"description": "Quels sont les principaux facteurs de risque ?\nL'âge est-il un facteur de risque ?\nLe stress a-t-il un impact sur ces enzymes ?\nLes antécédents familiaux influencent-ils le risque ?\nL'alimentation joue-t-elle un rôle ?",
"url": "https://questionsmedicales.fr/mesh/D036002?mesh_terms=Gain+of+Function+Mutation&page=2#section-facteurs de risque"
}
]
},
{
"@type": "FAQPage",
"mainEntity": [
{
"@type": "Question",
"name": "Comment diagnostiquer une dysfonction des ADP ribose transferases ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques et des analyses biochimiques peuvent être utilisés pour évaluer leur activité."
}
},
{
"@type": "Question",
"name": "Quels marqueurs biochimiques sont associés aux ADP ribose transferases ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les niveaux d'ADP-ribose libre et de protéines modifiées peuvent servir de marqueurs."
}
},
{
"@type": "Question",
"name": "Y a-t-il des tests spécifiques pour les ADP ribose transferases ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests enzymatiques spécifiques peuvent mesurer l'activité des ADP ribose transferases."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec ces enzymes ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies dans la réparation de l'ADN ou des troubles métaboliques peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les tests d'imagerie sont-ils utiles pour ces enzymes ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les tests d'imagerie ne sont pas utilisés pour diagnostiquer les dysfonctionnements enzymatiques."
}
},
{
"@type": "Question",
"name": "Quels symptômes sont liés à une déficience en ADP ribose transferases ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des troubles de la réparation de l'ADN, des maladies neurodégénératives et des cancers."
}
},
{
"@type": "Question",
"name": "Peut-on observer des symptômes neurologiques ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles cognitifs et des problèmes de mémoire peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'enzyme ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, différents types d'ADP ribose transferases peuvent entraîner des symptômes variés."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes cutanés associés ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies cutanées peuvent apparaître en raison de troubles métaboliques liés aux enzymes."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils toujours présents ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, certains patients peuvent être asymptomatiques malgré une dysfonction enzymatique."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les dysfonctionnements des ADP ribose transferases ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée et un mode de vie sain peuvent réduire les risques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des facteurs environnementaux à éviter ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à des toxines et à des radiations peut affecter l'activité enzymatique."
}
},
{
"@type": "Question",
"name": "Les dépistages réguliers sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des dépistages peuvent être utiles pour les personnes à risque élevé de maladies associées."
}
},
{
"@type": "Question",
"name": "L'exercice physique aide-t-il à prévenir ces dysfonctionnements ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exercice régulier peut améliorer la santé cellulaire et enzymatique."
}
},
{
"@type": "Question",
"name": "Les vaccinations ont-elles un rôle préventif ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les vaccinations ne sont pas directement liées à la prévention des dysfonctionnements enzymatiques."
}
},
{
"@type": "Question",
"name": "Quels traitements existent pour les dysfonctionnements enzymatiques ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies géniques et des médicaments ciblés peuvent être envisagés."
}
},
{
"@type": "Question",
"name": "Les suppléments peuvent-ils aider ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des suppléments d'ADP-ribose peuvent être envisagés, mais leur efficacité n'est pas prouvée."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des essais cliniques sur des inhibiteurs spécifiques des ADP ribose transferases sont en cours."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils personnalisés ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les traitements peuvent être adaptés en fonction du type de dysfonctionnement enzymatique."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils curatifs ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, la plupart des traitements visent à gérer les symptômes plutôt qu'à guérir la condition."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec ces dysfonctionnements ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des cancers, des maladies auto-immunes et des troubles neurologiques peuvent se développer."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être irréversibles."
}
},
{
"@type": "Question",
"name": "Y a-t-il un risque accru de maladies cardiovasculaires ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des études montrent un lien entre dysfonctionnement enzymatique et maladies cardiovasculaires."
}
},
{
"@type": "Question",
"name": "Les complications affectent-elles la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent significativement altérer la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles prévisibles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être anticipées en fonction des antécédents médicaux."
}
},
{
"@type": "Question",
"name": "Quels sont les principaux facteurs de risque ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs génétiques, l'exposition à des toxines et le mode de vie jouent un rôle."
}
},
{
"@type": "Question",
"name": "L'âge est-il un facteur de risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le vieillissement peut affecter l'activité des ADP ribose transferases."
}
},
{
"@type": "Question",
"name": "Le stress a-t-il un impact sur ces enzymes ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le stress oxydatif peut altérer l'activité des ADP ribose transferases."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de maladies liées peuvent augmenter le risque."
}
},
{
"@type": "Question",
"name": "L'alimentation joue-t-elle un rôle ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation riche en antioxydants peut réduire le risque de dysfonctionnement enzymatique."
}
}
]
}
]
}
Inborn errors of immunity have been implicated in causing immune dysregulation, including allergic diseases. STAT6 is a key regulator of allergic responses....
This study sought to characterize a novel gain-of-function STAT6 mutation identified in a child with severe allergic manifestations....
Whole-exome and targeted gene sequencing, lymphocyte characterization, and molecular and functional analyses of mutated STAT6 were performed....
This study reports a child with a missense mutation in the DNA binding domain of STAT6 (c.1114G>A, p.E372K) who presented with severe atopic dermatitis, eosinophilia, and elevated IgE. Naive lymphocyt...
This study identified a novel inborn error of immunity due to a STAT6 gain-of-function mutation that gave rise to severe allergic dysregulation. Janus kinase inhibitor therapy could represent an effec...
Ras-related C3 botulinum toxin substrate 2 (RAC2) is a GTPase exclusively expressed in hematopoietic cells that acts as a pivotal regulator of several aspects of cell behavior via various cellular pro...
Most known pathogenic mutations occur in protein-coding regions of DNA and change the way proteins are made. Taking protein structure into account has therefore provided great insight into the molecul...
The congenital short QT syndrome (SQTS) is a rare condition characterized by abbreviated rate-corrected QT (QTc) intervals on the electrocardiogram and by increased susceptibility to both atrial and v...
Throughout their lifetime, hematopoietic stem and progenitor cells (HSPCs) acquire somatic mutations. Some of these mutations alter HSPC functional properties such as proliferation and differentiation...
STAT1 is a transduction and transcriptional regulator that functions within the classical JAK/STAT pathway. In addition to chronic mucocutaneous candidiasis, bacterial infections are a common occurren...
Eleven patients (harboring nine different STAT1-GOF mutations) were enrolled. Reporter assays and immunoblot analyses were performed to confirm STAT1 mutations. Flow cytometry, deep sequencing, ELISA,...
All patients exhibited increased levels of phospho-STAT1 and total STAT1 protein, with two patients carrying novel mutations. In vitro assays showed that these two novel mutations were GOF mutations. ...
STAT1-GOF mutations disrupt B cell compartments and skew IGH characteristics, resulting in impaired affinity and antigen-specificity of antibodies and recurrent bacterial infections. Regular IVIG ther...
Dominant gain-of-function mechanisms in Huntington's disease (HD) suggest that selective silencing of mutant HTT produces robust therapeutic benefits. Here, capitalizing on exonic protospacer adjacent...
Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous...
Autosomal dominant polycystic kidney disease is caused by mutations in PKD1 or PKD2 genes. The latter encodes polycystin-2 (PC2, also known as TRPP2), a member of the transient receptor potential ion ...
Gain-of-function (GOF) mutations in...