Drosophila PLCG1 gain-of-function variants Phospholipase C phenotypic heterogeneity

Journal

medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986

Informations de publication

Date de publication:
09 Jan 2024
Historique:
pubmed: 23 1 2024
medline: 23 1 2024
entrez: 23 1 2024
Statut: epublish

Résumé

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate into inositol 1,4,5-trisphosphate and diacylglycerol, important signaling molecules involved in many cellular processes.

Identifiants

DOI: 10.1101/2024.01.08.23300523 PMID: 38260438 PMC: PMC10802640
pubmed: 38260438
doi: 10.1101/2024.01.08.23300523
pmc: PMC10802640
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NHGRI NIH HHS
ID : U24 HG011746
Pays : United States
Organisme : NIH HHS
ID : R24 OD031447
Pays : United States
Organisme : NICHD NIH HHS
ID : U54 HD083092
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007709
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG010233
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011744
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS134355
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006493
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG007942
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD103555
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS093793
Pays : United States
Organisme : NIH HHS
ID : R24 OD022005
Pays : United States

Déclaration de conflit d'intérêts

Conflict of Interest Statement The Department of Molecular and Human Genetics at Baylor College of Medicine receives revenue from clinical genetic testing completed at Baylor Genetics Laboratories.

Auteurs

Mengqi Ma (M)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.

Yiming Zheng (Y)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.
Current affiliation: State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Faculty of Medicine and Life Sciences, Xiamen University, Xiamen 361102, China.

Shenzhao Lu (S)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.

Xueyang Pan (X)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.

Kim C Worley (KC)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Lindsay C Burrage (LC)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Lauren S Blieden (LS)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Aimee Allworth (A)

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.

Wei-Liang Chen (WL)

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Current affiliation: Children's National Medical Center and George Washington University, Washington DC 20010, USA.

Giuseppe Merla (G)

Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia 71013, Italy.
Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples 80131, Italy.

Barbara Mandriani (B)

Department of Interdisciplinary Medicine, University of Bari "Aldo Moro", Bari 70121, Italy.

Jill A Rosenfeld (JA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

David Li-Kroeger (D)

Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

Debdeep Dutta (D)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.

Shinya Yamamoto (S)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.
ORCID: 0000-0003-2172-8036

Michael F Wangler (MF)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.

Ian A Glass (IA)

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA.
Brotman Baty Institute, Seattle, WA 98195, USA.

Sam Strohbehn (S)

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.

Elizabeth Blue (E)

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Brotman Baty Institute, Seattle, WA 98195, USA.
Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.

Paolo Prontera (P)

Medical Genetics Unit, Hospital of Perugia, Perugia 06129, Italy.

Seema R Lalani (SR)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Hugo J Bellen (HJ)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.

Classifications MeSH