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Quoted phrase not found in phrase index: "Autosomal recessive osteopetrosis 7"
Page 1
Osteopetrosis.
Khan MN, Datta PK, Hasan MI, Hossain MA, Patwary KH, Ferdous J. Khan MN, et al. Mymensingh Med J. 2011 Oct;20(4):715-8. Mymensingh Med J. 2011. PMID: 22081195
Laboratory findings revealed leukoerythroblastic blood picture with reduced haemoglobin (7.7 gm/dl). Skeletal survey showed generalized increased bone density, sclerosed medulary space, Rugger-Jersey spine and diploic space filled with dense materials. Overlapping c …
Laboratory findings revealed leukoerythroblastic blood picture with reduced haemoglobin (7.7 gm/dl). Skeletal survey showed ge …
Sclerosing bone disorders.
de Vernejoul MC. de Vernejoul MC. Best Pract Res Clin Rheumatol. 2008 Mar;22(1):71-83. doi: 10.1016/j.berh.2007.12.011. Best Pract Res Clin Rheumatol. 2008. PMID: 18328982 Review.
Osteocondensation can result from decreased bone resorption; malignant recessive osteopetroses have been related to mutations in several genes necessary for osteoclast function and also, more recently, to osteoclast differentiation (RANK-L). Albers-Schonberg disease …
Osteocondensation can result from decreased bone resorption; malignant recessive osteopetroses have been related to mutations …
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
Pangrazio A, Caldana ME, Lo Iacono N, Mantero S, Vezzoni P, Villa A, Sobacchi C. Pangrazio A, et al. Osteoporos Int. 2012 Nov;23(11):2713-8. doi: 10.1007/s00198-011-1878-5. Epub 2012 Jan 10. Osteoporos Int. 2012. PMID: 22231430
The characterisation of mutations in this gene might be useful in the process of drug design for osteoporosis treatment. INTRODUCTION: Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder due to reduced bone resorption by osteoclast …
The characterisation of mutations in this gene might be useful in the process of drug design for osteoporosis treatment. INTRODUCTION: Au …
Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.
Aggarwal S. Aggarwal S. Gene. 2013 Oct 1;528(1):41-5. doi: 10.1016/j.gene.2013.04.069. Epub 2013 May 5. Gene. 2013. PMID: 23657117 Review.
Osteopetrosis, which remained an enigma in the early part of its description, is now known to be genetically heterogenous. Other disorders in this group, which were initially described as variant forms of osteopetrosis, are now recognised to be distinct conditions. …
Osteopetrosis, which remained an enigma in the early part of its description, is now known to be genetically heterogenous. Other diso …
Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.
Even-Or E, Schiesel G, Simanovsky N, NaserEddin A, Zaidman I, Elpeleg O, Mor-Shaked H, Stepensky P. Even-Or E, et al. Bone. 2022 Jan;154:116229. doi: 10.1016/j.bone.2021.116229. Epub 2021 Oct 8. Bone. 2022. PMID: 34624559
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. ...The most common genetic mutation was in the TCIRG1 gene (n = 46, 56.8%), followed by SNX10 (n = 20, 25%). Other genetic mutations included RANK (n = …
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. ...The most c …
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. ...There were 12 cases of acute graft versus host …
BACKGROUND: Infantile malignant osteopetrosis (IMO) is an autosomal recessive condition characterized by defective oste …
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.
Xue JY, Simsek-Kiper PO, Utine GE, Yan L, Wang Z, Taskiran EZ, Karaosmanoglu B, Imren G, Gocmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S, Guo L. Xue JY, et al. J Hum Genet. 2021 Jun;66(6):607-611. doi: 10.1038/s10038-020-00891-w. Epub 2021 Jan 6. J Hum Genet. 2021. PMID: 33402699
DOS is genetically heterogeneous and causally associated with mutations in three genes, SLC29A3, CSF1R, and TNFRSF11A. TNFRSF11A has been known as the causal gene for osteopetrosis, autosomal recessive 7, and is recently reported to cause DOS in three …
DOS is genetically heterogeneous and causally associated with mutations in three genes, SLC29A3, CSF1R, and TNFRSF11A. TNFRSF11A has been kn …
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. Several disease-causing genes have been identified and three distinguished types of osteopetrosis have been …
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 …
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