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Year Number of Results
1993 2
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2005 1
2007 1
2008 4
2009 2
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Page 1
Osteopetrosis.
Stark Z, Savarirayan R. Stark Z, et al. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Orphanet J Rare Dis. 2009. PMID: 19232111 Free PMC article. Review.
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 birt …
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an i …
Phenotype-autosomal recessive osteopetrosis.
Pillai NR, Aggarwal A, Orchard P. Pillai NR, et al. Bone. 2022 Dec;165:116577. doi: 10.1016/j.bone.2022.116577. Epub 2022 Oct 3. Bone. 2022. PMID: 36195244 Review.
The autosomal recessive forms, caused by biallelic variants in implicated genes, usually present in infancy. Without treatment, autosomal recessive OPTs are usually fatal within the first 10 years of life [1]. ...
The autosomal recessive forms, caused by biallelic variants in implicated genes, usually present in infancy. Without treatment …
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
Villa A, Guerrini MM, Cassani B, Pangrazio A, Sobacchi C. Villa A, et al. Calcif Tissue Int. 2009 Jan;84(1):1-12. doi: 10.1007/s00223-008-9196-4. Epub 2008 Dec 12. Calcif Tissue Int. 2009. PMID: 19082854 Review.
Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a defect in osteoclasts, bone resorption is prevented. The deficit could arise either from failure in osteoclast differentiation or from inability to perform resorption by mature, mu …
Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a defect in osteoclasts, bone resorption i …
Genetic disorders associated with the RANKL/OPG/RANK pathway.
Xue JY, Ikegawa S, Guo L. Xue JY, et al. J Bone Miner Metab. 2021 Jan;39(1):45-53. doi: 10.1007/s00774-020-01148-4. Epub 2020 Sep 17. J Bone Miner Metab. 2021. PMID: 32940787 Review.
The other is caused by the de-activating mutations in TNFRSF11A or TNFSF11, which decrease osteoclastogenesis and elevate bone density, resulting in osteopetrosis, autosomal recessive 2 and 7, and dysosteosclerosis. Here we reviewed the current knowledge abou …
The other is caused by the de-activating mutations in TNFRSF11A or TNFSF11, which decrease osteoclastogenesis and elevate bone density, resu …
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 …
Genetic diversity among the Arabs.
Teebi AS, Teebi SA. Teebi AS, et al. Community Genet. 2005;8(1):21-6. doi: 10.1159/000083333. Community Genet. 2005. PMID: 15767750 Review.
The patterns of autosomal recessive disorders, including their mutations, may be different in various geographic locations within the Arab world. ...The Arab Genetic diseases include Bardet-Biedl syndrome, Meckel syndrome, autosomal recessive severe ch …
The patterns of autosomal recessive disorders, including their mutations, may be different in various geographic locations wit …
Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature.
Stark Z, Pangrazio A, McGillivray G, Fink AM. Stark Z, et al. Eur J Med Genet. 2013 Jan;56(1):36-8. doi: 10.1016/j.ejmg.2012.10.001. Epub 2012 Oct 17. Eur J Med Genet. 2013. PMID: 23085203 Review.
SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative. Brain malformations are not typically co …
SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known t …
Genetic diseases of acid-base transporters.
Alper SL. Alper SL. Annu Rev Physiol. 2002;64:899-923. doi: 10.1146/annurev.physiol.64.092801.141759. Annu Rev Physiol. 2002. PMID: 11826292 Review.
Genetic disorders of acid-base transporters involve plasmalemmal and organellar transporters of H(+), HCO3(-), and Cl(-). Autosomal-dominant and -recessive forms of distal renal tubular acidosis (dRTA) are caused by mutations in ion transporters of the acid-secretin …
Genetic disorders of acid-base transporters involve plasmalemmal and organellar transporters of H(+), HCO3(-), and Cl(-). Autosomal-d …
Genetics, pathogenesis and complications of osteopetrosis.
Del Fattore A, Cappariello A, Teti A. Del Fattore A, et al. Bone. 2008 Jan;42(1):19-29. doi: 10.1016/j.bone.2007.08.029. Epub 2007 Aug 30. Bone. 2008. PMID: 17936098 Review.
Patients also present with osteosclerosis, short stature, malformations and brittle bones. This form is fatal in infancy, has an autosomal recessive inheritance and is cured with hematopoietic stem cell transplantation, with a rate of success <50% and unsatisfact …
Patients also present with osteosclerosis, short stature, malformations and brittle bones. This form is fatal in infancy, has an autosoma …
Osteopetrosis. Current clinical considerations.
Shapiro F. Shapiro F. Clin Orthop Relat Res. 1993 Sep;(294):34-44. Clin Orthop Relat Res. 1993. PMID: 8358940 Review.
Osteopetrosis is an inherited skeletal condition characterized by increased bone radiodensity. There are three clinical groups: infantile-malignant autosomal recessive, fatal within the first few years of life (in the absence of effective therapy); intermedia …
Osteopetrosis is an inherited skeletal condition characterized by increased bone radiodensity. There are three clinical groups: infan …
26 results