Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort.

Mendelian bladder genetics genital genomics pain urinary

Journal

Advanced genetics (Hoboken, N.J.)
ISSN: 2641-6573
Titre abrégé: Adv Genet (Hoboken)
Pays: United States
ID NLM: 101774320

Informations de publication

Date de publication:
Mar 2023
Historique:
received: 21 03 2022
revised: 03 10 2022
entrez: 13 3 2023
pubmed: 14 3 2023
medline: 14 3 2023
Statut: epublish

Résumé

Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic pain disorder causing symptoms of urinary frequency, urgency, and bladder discomfort or pain. Although this condition affects a large population, little is known about its etiology. Genetic analyses of whole exome sequencing are performed on 109 individuals with IC/BPS. One family has a previously reported 

Identifiants

pubmed: 36910591
doi: 10.1002/ggn2.202200013
pii: GGN2202200013
pmc: PMC10000272
doi:

Types de publication

Journal Article

Langues

eng

Pagination

2200013

Subventions

Organisme : NCCDPHP CDC HHS
ID : U01 DP006634
Pays : United States

Informations de copyright

© 2022 The Authors. Advanced Genetics published by Wiley Periodicals LLC.

Déclaration de conflit d'intérêts

The authors declare no conflict of interest.

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Auteurs

Elicia Estrella (E)

Department of Neurology Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Shira Rockowitz (S)

The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
Research Computing Information Technology Boston Children's Hospital Boston MA 02115 USA.

Marielle Thorne (M)

Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Pressley Smith (P)

Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Jeanette Petit (J)

Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Veronica Zehnder (V)

Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Richard N Yu (RN)

Department of Urology Boston Children's Hospital Boston MA 02115 USA.

Stuart Bauer (S)

Department of Urology Boston Children's Hospital Boston MA 02115 USA.

Charles Berde (C)

The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
Department of Anesthesiology, Critical Care and Pain Medicine Boston Children's Hospital Boston MA 02115 USA.
Department of Anaesthesia Harvard Medical School Boston MA 02115 USA.

Pankaj B Agrawal (PB)

Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
Division of Newborn Medicine Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Alan H Beggs (AH)

Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Ali G Gharavi (AG)

Institute for Genomic Medicine Vagelos College of Physicians & Surgeons Columbia University New York NY 10032 USA.
Division of Nephrology Department of Medicine Vagelos College of Physicians & Surgeons Columbia University New York NY 10032 USA.
Center for Precision Medicine and Genomics Department of Medicine Vagelos College of Physicians & Surgeons Columbia University New York NY 10032 USA.

Louis Kunkel (L)

Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Catherine A Brownstein (CA)

Division of Genetics and Genomics Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.
The Manton Center for Orphan disease Research Boston Children's Hospital Harvard Medical School Boston MA 02115 USA.

Classifications MeSH