Cargando…

Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis

BACKGROUND: Osteopetrosis is a rare genetic disorder characterized by increased bone density due to a defective osteoclast’s bone resorption. Three clinical forms can be identified based on severity, age of onset and inheritance: the dominant benign form (ADO), the intermediate form (IRO) and the re...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bonapace, Giuseppe, Moricca, Maria Teresa, Talarico, Valentina, Graziano, Francesca, Pensabene, Licia, Miniero, Roberto
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253627/ https://www.ncbi.nlm.nih.gov/pubmed/25410126 http://dx.doi.org/10.1186/s13052-014-0090-6

Ejemplares similares

Identification of Somatic Mutations in CLCN2 in Aldosterone-Producing Adenomas
por: Rege, Juilee, et al.
Publicado: (2020)

Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis
por: Bug, Dmitrii S., et al.
Publicado: (2020)

Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis
por: Okamoto, Nana, et al.
Publicado: (2017)

Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies
por: Gianesello, Lisa, et al.
Publicado: (2020)

Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
por: Piret, Sian E., et al.
Publicado: (2016)

A Case of Autosomal Dominant Osteopetrosis Type 2 with a CLCN7 Gene Mutation
por: Kang, Sol, et al.
Publicado: (2019)

A novel compound heterozygous mutation of the CLCN7 gene is associated with autosomal recessive osteopetrosis
por: Wang, Xia, et al.
Publicado: (2023)

Iron Deficiency Anemia in Celiac Disease
por: Talarico, Valentina, et al.
Publicado: (2021)

Iron Deficiency Anemia Refractory to Conventional Therapy but Responsive to Feralgine(®) in a Young Woman with Celiac Disease
por: Talarico, Valentina, et al.
Publicado: (2021)

SAT-549 Identification of Somatic Mutations in CLCN2 as a Cause of Aldosterone-Producing Adenomas
por: Rege, Juilee, et al.
Publicado: (2020)

Identification of Chloride Channels CLCN3 and CLCN5 Mediating the Excitatory Cl(−) Currents Activated by Sphingosine-1-Phosphate in Sensory Neurons
por: Qi, Yanmei, et al.
Publicado: (2018)

Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2
por: Deng, Hao, et al.
Publicado: (2016)

Null mutation of chloride channel 7 (Clcn7) impairs dental root formation but does not affect enamel mineralization
por: Guo, Jing, et al.
Publicado: (2015)

A Novel Variant in CLCN7 Regulates the Coupling of Angiogenesis and Osteogenesis
por: Peng, Hui, et al.
Publicado: (2020)

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita
por: Gandolfi, Barbara, et al.
Publicado: (2014)

CLCN2 Chloride Channel Mutations in Familial Hyperaldosteronism Type II
por: Scholl, Ute I., et al.
Publicado: (2018)

Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
por: Moon, In-Soo, et al.
Publicado: (2009)

Novel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports
por: Lakraj, Amanda Amrita, et al.
Publicado: (2013)

Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
por: Hu, Chaoping, et al.
Publicado: (2021)

Case report: A frameshift mutation in CLCN2-related leukoencephalopathy and retinopathy
por: Cheng, Yizhe, et al.
Publicado: (2023)

A novel missense mutation in the CLCN7 gene linked to benign autosomal dominant osteopetrosis: a case series
por: Rashid, Ban Mousa, et al.
Publicado: (2013)

Feralgine™ a New Approach for Iron Deficiency Anemia in Celiac Patients
por: Giancotti, Laura, et al.
Publicado: (2019)

A Novel CLCN5 Mutation Associated With Focal Segmental Glomerulosclerosis and Podocyte Injury
por: Solanki, Ashish K., et al.
Publicado: (2018)

The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders
por: Scionti, Francesca, et al.
Publicado: (2018)

Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C>T mutation in CLCN7
por: Chen, Xiang, et al.
Publicado: (2016)

Autosomal dominant osteopetrosis type II resulting from a de novo mutation in the CLCN7 gene: A case report
por: Song, Xiu-Li, et al.
Publicado: (2022)

Genetic Analysis of CLCN7 in an Old Female Patient with Type II Autosomal Dominant Osteopetrosis
por: Kim, Seon Young, et al.
Publicado: (2018)

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
por: Portaro, Simona, et al.
Publicado: (2015)

Nephrolithiasis, kidney failure and bone disorders in Dent disease patients with and without CLCN5 mutations
por: Anglani, Franca, et al.
Publicado: (2015)

Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene
por: Matsumoto, Ayumi, et al.
Publicado: (2018)

A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings
por: Chakravarty, Kamalesh, et al.
Publicado: (2021)

A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
por: Woelfel, Christian, et al.
Publicado: (2022)

A Tunisian patient with CLCN2‐related leukoencephalopathy
por: Ben Mohamed, Dina, et al.
Publicado: (2022)

Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease
por: Mura-Escorche, Glorián, et al.
Publicado: (2023)

Gastrointestinal Symptoms of Patients with Fabry Disease
por: Pensabene, Licia, et al.
Publicado: (2016)

The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants
por: Cao, Xu, et al.
Publicado: (2023)

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
por: Miryounesi, Mohammad, et al.
Publicado: (2016)

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia
por: Altamura, Concetta, et al.
Publicado: (2020)

A novel CLCN5 frame shift mutation responsible for Dent disease 1: Case report
por: Ni, Jiajia, et al.
Publicado: (2022)

Clinical Characteristics and Analysis of CLCN1 in Patients with "EMG Disease"
por: Nam, Tai-Seung, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_oqp143nl15jvs9pmus0p0koisb