| Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis. | Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis.
Lee CL, Chang YW, Lin HY, Lee HC, Yeh TC, Fang LC, Lee NC, Tsai JD, Lin SP., Free PMC Article | 08/1/2024 |
| Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease. | Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
Polovitskaya MM, Rana T, Ullrich K, Murko S, Bierhals T, Vogt G, Stauber T, Kubisch C, Santer R, Jentsch TJ., Free PMC Article | 07/25/2024 |
| Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl[-]/H[+] Exchanger ClC-7. | Impaired Autophagic Clearance with a Gain-of-Function Variant of the Lysosomal Cl(-)/H(+) Exchanger ClC-7.
Bose S, de Heus C, Kennedy ME, Wang F, Jentsch TJ, Klumperman J, Stauber T., Free PMC Article | 01/3/2024 |
| The Role of the Lysosomal Cl(-)/H(+) Antiporter ClC-7 in Osteopetrosis and Neurodegeneration. | The Role of the Lysosomal Cl(-)/H(+) Antiporter ClC-7 in Osteopetrosis and Neurodegeneration.
Zifarelli G., Free PMC Article | 04/16/2022 |
| CLCN7-related neuropathic infantile osteopetrosis in siblings. | CLCN7-related neuropathic infantile osteopetrosis in siblings.
Tachikawa J, Takahashi Y, Miura M, Soeno Y, Tanaka A. | 01/15/2022 |
| Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants. | Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
Di Zanni E, Palagano E, Lagostena L, Strina D, Rehman A, Abinun M, De Somer L, Martire B, Brown J, Kariminejad A, Balasubramaniam S, Baynam G, Gurrieri F, Pisanti MA, De Maggio I, Abboud MR, Chiesa R, Burren CP, Villa A, Sobacchi C, Picollo A. | 09/18/2021 |
| Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis. | Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosis.
Rössler U, Hennig AF, Stelzer N, Bose S, Kopp J, Søe K, Cyganek L, Zifarelli G, Ali S, von der Hagen M, Strässler ET, Hahn G, Pusch M, Stauber T, Izsvák Z, Gossen M, Stachelscheid H, Kornak U. | 08/14/2021 |
| Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications. | Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications.
Norwood I, Szondi D, Ciocca M, Coudert A, Cohen-Solal M, Rucci N, Teti A, Maurizi A. | 07/24/2021 |
| Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis. | Identification and Characterization of a Novel CLCN7 Variant Associated with Osteopetrosis.
Bug DS, Barkhatov IM, Gudozhnikova YV, Tishkov AV, Zhulin IB, Petukhova NV., Free PMC Article | 07/24/2021 |
| Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1. | Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7 in complex with OSTM1.
Schrecker M, Korobenko J, Hite RK., Free PMC Article | 02/27/2021 |
| p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles. | Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M, Undiagnosed Diseases Network, Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV., Free PMC Article | 03/14/2020 |
| These findings highlighted the vital role of clcn7 in zebrafish craniofacial bone and tooth development and mineralization, revealing novel insights for the causation of osteopetrosis with CLCN7 mutations. | ClC-7 Regulates the Pattern and Early Development of Craniofacial Bone and Tooth.
Zhang Y, Ji D, Li L, Yang S, Zhang H, Duan X., Free PMC Article | 02/1/2020 |
| Various mutations (R286W, Y746D, Y99C, G793R, E313K, c.22322A>G, P470L and K217X) in the CLCN7 gene were identified in six patients with familial osteopetrosis and one patient with sporadic osteopetrosis. | Novel CLCN7 mutations cause autosomal dominant osteopetrosis type II and intermediate autosomal recessive osteopetrosis.
Li L, Lv SS, Wang C, Yue H, Zhang ZL. | 09/14/2019 |
| CLCN7 mutation is associated with osteopetrosis. | CLCN7 and TCIRG1 mutations in a single family: Evidence for digenic inheritance of osteopetrosis.
Yang Y, Ye W, Guo J, Zhao L, Tu M, Zheng Y, Li L. | 06/1/2019 |
| This study was aimed to identify the underlying genetic cause of the disease in a Pakistani family segregating infantile malignant osteopetrosis in autosomal recessive pattern. Two novel homozygous missense variants were found in the same codon 204 of CLCN7 NM_001287.5:c.[610A>T;612C>G] predicting p.(Ser204Trp) variant in the protein. | Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.
Khan MA, Ullah A, Naeem M. | 05/4/2019 |
| In this study, whole exome sequencing (WES) was successfully used in six patients with malignant infantile osteopetrosis (MIOP) and identified mutations in four MIOP-related genes (CLCN7, TCIRG1, SNX10, and TNFRSF11A). | The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis.
Shamriz O, Shaag A, Yaacov B, NaserEddin A, Weintraub M, Elpeleg O, Stepensky P. | 03/17/2018 |
| The present study revealed three novel mutations, showed the dense but brittle sclerotic bones of an autosomal dominant osteopetrosis type II (OPTA2) patient, characterized OPTA2 symptoms from benign to fatal and reported a rare intermediate case of autosomal recessive 4 in a Chinese population. | Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADOII) and intermediate autosomal recessive osteopetrosis (ARO) in seven Chinese families.
Zhang X, Wei Z, He J, Wang C, Zhang Z. | 12/2/2017 |
| we identified a CLCN7 mutation in a family with autosomal dominant osteopetrosis, RTA, renal stones, epilepsy, and blindness. | Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation.
Piret SE, Gorvin CM, Trinh A, Taylor J, Lise S, Taylor JC, Ebeling PR, Thakker RV., Free PMC Article | 10/21/2017 |
| present findings suggest that the novel missense mutations V289L and A542V in the CLCN7 gene were responsible for autosomal dominant osteopetrosis (type II) in the two Chinese families. | Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).
Zheng H, Shao C, Zheng Y, He JW, Fu WZ, Wang C, Zhang ZL. | 03/11/2017 |
| Exome sequencing and Sanger sequencing were conducted in Han Chinese family members, some of whom had typical osteopetrosis, and a novel missense variant c.2350A>T (p.R784W) in the chloride channel 7 gene (CLCN7) was identified. | Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.
Deng H, He D, Rong P, Xu H, Yuan L, Li L, Lu Q, Guo Y., Free PMC Article | 12/31/2016 |
| The present study identified seven novel mutations of the CLCN7 gene and reported the first case of intermediate autosomal recessive osteopetrosis. with compound heterozygous mutation in the Chinese population. | Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients.
Pang Q, Chi Y, Zhao Z, Xing X, Li M, Wang O, Jiang Y, Liao R, Sun Y, Dong J, Xia W. | 12/17/2016 |
| study demonstrates a wide heterogeneity in the progression of the phenotypes and expanded the mutational spectrum for the CLCN7 gene | A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.
Zeng B, Li R, Hu Y, Hu B, Zhao Q, Liu H, Yuan P, Wang Y. | 03/19/2016 |
| the unusual clinical presentation observed in our patient with a mild clinical onset evolving towards a more serious clinical picture, is associated to two novel mutations on CLCN7 gene. | Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis.
Bonapace G, Moricca MT, Talarico V, Graziano F, Pensabene L, Miniero R., Free PMC Article | 01/16/2016 |
| Results show that ClC-7 is strongly expressed in OUMS-27,a chondrocyte cell line and is responsible for Cl- current. Its downregulation during the hypoosmotic stress accompanying osteoarthritis progression is part of the complex etiology of the disease. | The ClC-7 Chloride Channel Is Downregulated by Hypoosmotic Stress in Human Chondrocytes.
Kurita T, Yamamura H, Suzuki Y, Giles WR, Imaizumi Y. | 08/15/2015 |
| analysis demonstrates that CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization, and that there is a need to modify the current classification of osteopetrosis | CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig CF, Beil FT, Pestka JM, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch TJ, Teti A, Schulz A, Schinke T, Amling M. | 12/6/2014 |