A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could

Adaptor Proteins, Signal Transducing / genetics Adult Choroideremia / diagnosis Female Humans Male Middle Aged Retina / pathology Retinal Degeneration / genetics Retinitis Pigmentosa / metabolism
CHM Choroideremia REP1 X-linked disease female carrier manifesting female

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
17 07 2022
Historique:
received: 09 06 2022
revised: 08 07 2022
accepted: 14 07 2022
entrez: 27 7 2022
pubmed: 28 7 2022
medline: 29 7 2022
Statut: epublish

Résumé

Choroideremia is an X-linked recessive condition presenting in males, with progressive degeneration of retinal and choroidal tissues leading to progressive visual loss. Its pathological mechanism is due to alterations in the

Identifiants

DOI: 10.3390/genes13071268 PMID: 35886051 PMC: PMC9321261
pubmed: 35886051
pii: genes13071268
doi: 10.3390/genes13071268
pmc: PMC9321261
pii:
doi:

Substances chimiques

Adaptor Proteins, Signal Transducing 0
CHM protein, human 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Références

Ophthalmic Genet. 2012 Jun;33(2):57-65
pubmed: 22017263
Am J Ophthalmol. 2019 Nov;207:77-86
pubmed: 31181178
Protein Sci. 2000 Nov;9(11):2278-84
pubmed: 11152139
Cell Mol Life Sci. 2021 Oct;78(19-20):6505-6532
pubmed: 34420069
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Mol Cell. 2003 Feb;11(2):483-94
pubmed: 12620235
Genet Med. 2020 Jul;22(7):1156-1174
pubmed: 32284538
Adv Exp Med Biol. 2016;854:325-31
pubmed: 26427428
Annu Rev Biochem. 1996;65:241-69
pubmed: 8811180
Nature. 2017 Oct 11;550(7675):244-248
pubmed: 29022598
Am J Med Genet A. 2009 Oct;149A(10):2134-40
pubmed: 19764077
EMBO J. 2008 Sep 17;27(18):2444-56
pubmed: 18756270
Cell. 2004 Jun 11;117(6):749-60
pubmed: 15186776
Biochem J. 2008 Oct 1;415(1):67-75
pubmed: 18532927
Nature. 2021 Aug;596(7873):583-589
pubmed: 34265844
Hum Mutat. 2021 Apr;42(4):323-341
pubmed: 33538369
Nucleic Acids Res. 1994 Nov 11;22(22):4673-80
pubmed: 7984417
Curr Protoc Bioinformatics. 2006 Oct;Chapter 5:Unit-5.6
pubmed: 18428767
Nature. 2005 Mar 17;434(7031):400-4
pubmed: 15772666
Expert Opin Orphan Drugs. 2015 Jul 01;3(7):787-798
pubmed: 26251765
Bioinformatics. 2021 Jun 16;37(10):1471-1472
pubmed: 33010156
Proc Natl Acad Sci U S A. 1999 Jun 22;96(13):7364-9
pubmed: 10377420
Ophthalmology. 2015 Jun;122(6):1274-6
pubmed: 25682176

Auteurs

Niccolò Di Giosaffatte (N)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
ORCID: 0000-0002-4913-9471

Michele Valiante (M)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.

Stefano Tricarico (S)

ASL Roma 2, 00100 Rome, Italy.

Giulia Parise (G)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.

Anna Maria De Negri (AM)

Neuro-Ophthalmology Clinic, San Camillo-Forlanini Hospital, 00152 Rome, Italy.

Guido Ricciotti (G)

Department of Ophthalmology, University Hospital of Parma, 43126 Parma, Italy.

Lara Florean (L)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.

Alessandro Paiardini (A)

Department of Biochemical Sciences "A. Rossi Fanelli", Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy.
ORCID: 0000-0001-9078-7545

Irene Bottillo (I)

Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.
ORCID: 0000-0003-0396-7981

Paola Grammatico (P)

Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, 00185 Rome, Italy.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines adaptatrices de la transduction du signal › A Novel Hypothesis on...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A Novel Hypothesis on...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies génétiques liées au chromosome X › Choroïdérémie › A Novel Hypothesis on...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A Novel Hypothesis on...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › A Novel Hypothesis on...
questionsmedicales.fr › Organes des sens › Oeil › Rétine › A Novel Hypothesis on...
questionsmedicales.fr › Maladies de l'oeil › Rétinopathies › Dégénérescence de la rétine › A Novel Hypothesis on...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies héréditaires de l'oeil › Rétinite pigmentaire › A Novel Hypothesis on...