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Quoted phrase not found in phrase index: "Autosomal recessive osteopetrosis 7"
Page 1
Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP.
Dulski J, Souza J, Santos ML, Wszolek ZK. Dulski J, et al. Orphanet J Rare Dis. 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. Orphanet J Rare Dis. 2023. PMID: 37349768 Free PMC article. Review.
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and autosomal-recessive brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). ...A single brain autopsy evidenc …
CSF1R mutations cause autosomal-dominant CSF1R-related leukoencephalopathy with axonal spheroids and pigmented glia (CSF1R-ALSP) and …
Dysosteosclerosis is also caused by TNFRSF11A mutation.
Guo L, Elcioglu NH, Karalar OK, Topkar MO, Wang Z, Sakamoto Y, Matsumoto N, Miyake N, Nishimura G, Ikegawa S. Guo L, et al. J Hum Genet. 2018 Jun;63(6):769-774. doi: 10.1038/s10038-018-0447-6. Epub 2018 Mar 22. J Hum Genet. 2018. PMID: 29568001
Dysosteosclerosis (DOS) is a form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. Its mode of inheritance is autosomal recessive. SLC29A3 mutations have been reported as the causal gene in two DOS families, however, genetic he …
Dysosteosclerosis (DOS) is a form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. Its mode of inheri …
Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis.
Zirngibl RA, Wang A, Yao Y, Manolson MF, Krueger J, Dupuis L, Mendoza-Londono R, Voronov I. Zirngibl RA, et al. J Cell Biochem. 2019 Oct;120(10):17180-17193. doi: 10.1002/jcb.28979. Epub 2019 May 20. J Cell Biochem. 2019. PMID: 31111556
Autosomal recessive osteopetrosis (ARO) is a severe genetic bone disease characterized by high bone density due to mutations that affect formation or function of osteoclasts. ...Among these deletions, only deltaE56 maintained the reading frame and was pred …
Autosomal recessive osteopetrosis (ARO) is a severe genetic bone disease characterized by high bone density due to muta …
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. Yang Y, et al. Mol Med Rep. 2019 Jan;19(1):595-600. doi: 10.3892/mmr.2018.9648. Epub 2018 Nov 13. Mol Med Rep. 2019. PMID: 30431110
Osteopetrosis is a monogenic condition with various inheritance patterns, including autosomal dominant, autosomal recessive and X-linked. ...To the best of our knowledge, this is the first report of human osteopetrosis involving digenic inherita …
Osteopetrosis is a monogenic condition with various inheritance patterns, including autosomal dominant, autosomal re …
Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter.
Cao W, Wei W, Yu G, Wu Q, Qin M. Cao W, et al. J Pediatr Ophthalmol Strabismus. 2019 Jan 23;56(1):35-42. doi: 10.3928/01913913-20180921-01. Epub 2018 Oct 26. J Pediatr Ophthalmol Strabismus. 2019. PMID: 30371911
PURPOSE: To investigate the difference in the optic canal diameter between children with autosomal recessive malignant infantile osteopetrosis and normal children, and to assess the influence of hematopoietic stem cell transplantation on the optic canal diame …
PURPOSE: To investigate the difference in the optic canal diameter between children with autosomal recessive malignant infanti …
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. Khan MA, et al. Mol Biol Rep. 2018 Aug;45(4):565-570. doi: 10.1007/s11033-018-4194-8. Epub 2018 Jun 20. Mol Biol Rep. 2018. PMID: 29926385
Autosomal recessive osteopetrosis is a severe fatal disorder with an average incidence of around 1:250,000. ...This study was aimed to identify the underlying genetic cause of the disease in a Pakistani family segregating infantile malignant osteopetrosis …
Autosomal recessive osteopetrosis is a severe fatal disorder with an average incidence of around 1:250,000. ...This stu …
Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis.
Yu T, Yu Y, Wang J, Yin L, Zhou Y, Ying D, Huang R, Chen H, Wu S, Shen Y, Fu Q, Chen F. Yu T, et al. Mol Med Rep. 2014 Apr;9(4):1191-6. doi: 10.3892/mmr.2014.1955. Epub 2014 Feb 17. Mol Med Rep. 2014. PMID: 24535484
The three main forms are the autosomal recessive severe (ARO), the intermediate autosomal and the autosomal dominant benign osteopetrosis forms. ...Two aberrant forms of the CLCN7 transcripts, c.1798_1883 (exon 20) deletion predicted to c …
The three main forms are the autosomal recessive severe (ARO), the intermediate autosomal and the autosomal domi …
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Frattini A, et al. J Bone Miner Res. 2003 Oct;18(10):1740-7. doi: 10.1359/jbmr.2003.18.10.1740. J Bone Miner Res. 2003. PMID: 14584882 Free article.
INTRODUCTION: Human osteopetroses are a heterogeneous group of diseases that include both infantile severe, autosomal recessive (ARO) and adult autosomal dominant (ADO) forms. ...RESULTS AND CONCLUSIONS: In 56 of 94 patients with a classical picture of …
INTRODUCTION: Human osteopetroses are a heterogeneous group of diseases that include both infantile severe, autosomal reces …
Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning.
Shadur B, Zaidman I, NaserEddin A, Lokshin E, Hussein F, Oron HC, Avni B, Grisariu S, Stepensky P. Shadur B, et al. Pediatr Blood Cancer. 2018 Jun;65(6):e27010. doi: 10.1002/pbc.27010. Epub 2018 Feb 22. Pediatr Blood Cancer. 2018. PMID: 29469225
BACKGROUND: Infantile malignant osteopetrosis (IMO) is an autosomal recessive condition characterized by defective osteoclast activity, with hematopoietic bone marrow transplant being the only available cure. ...
BACKGROUND: Infantile malignant osteopetrosis (IMO) is an autosomal recessive condition characterized by defective oste …
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. Zhang X, et al. Postgrad Med. 2017 Nov;129(8):934-942. doi: 10.1080/00325481.2017.1386529. Epub 2017 Oct 11. Postgrad Med. 2017. PMID: 28975865
OBJECTIVES: Defects in the chloride channel 7 (CLCN7) gene lead to autosomal dominant osteopetrosis type II (ADOII, OPTA2 MIM 166600) and autosomal recessive osteopetrosis, autosomal recessive 4 (ARO, OPTB4 MIM 611490). ...One OPTA …
OBJECTIVES: Defects in the chloride channel 7 (CLCN7) gene lead to autosomal dominant osteopetrosis type II (ADOII, OPTA2 MIM …
22 results