Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 2
2013 1
2015 2
2016 2
2017 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Complex lethal osteochondrodysplasia"
Page 1
Local amino acid sequence patterns dominate the heterogeneous phenotype for the collagen connective tissue disease Osteogenesis Imperfecta resulting from Gly mutations.
Xiao J, Yang Z, Sun X, Addabbo R, Baum J. Xiao J, et al. J Struct Biol. 2015 Oct;192(1):127-37. doi: 10.1016/j.jsb.2015.05.002. Epub 2015 May 15. J Struct Biol. 2015. PMID: 25980613 Free PMC article.
We show that different Gly X mutations have different local sequence patterns that are correlated with lethal and nonlethal phenotypes providing a mechanism for understanding the sensitivity of local context in defining lethal and non-lethal OI. ...The analys …
We show that different Gly X mutations have different local sequence patterns that are correlated with lethal and nonlethal phenotype …
Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.
Barbirato C, Trancozo M, Almeida MG, Almeida LS, Santos TO, Duarte JC, Rebouças MR, Sipolatti V, Nunes VR, Paula F. Barbirato C, et al. Genet Mol Res. 2015 Dec 3;14(4):15848-58. doi: 10.4238/2015.December.1.36. Genet Mol Res. 2015. PMID: 26634552 Free article.
The LEPRE1, CRTAP, and PPIB genes encode proteins that form the P3H1/CRTAP/CypB complex, which is responsible for posttranslational modifications of type I collagen. ...LEPRE1 contained the highest number of variants, including the previously described West African allele …
The LEPRE1, CRTAP, and PPIB genes encode proteins that form the P3H1/CRTAP/CypB complex, which is responsible for posttranslational m …
Milder presentation of osteogenesis imperfecta type VIII due to compound heterozygosity for a predicted loss-of-function variant and novel missense variant in P3H1-further expansion of the phenotypic spectrum.
Mikhail KA, VanSickle E, Rossetti LZ. Mikhail KA, et al. Cold Spring Harb Mol Case Stud. 2023 Mar 24;9(1):a006260. doi: 10.1101/mcs.a006260. Print 2023 Feb. Cold Spring Harb Mol Case Stud. 2023. PMID: 36963805 Free PMC article.
Autosomal recessive OI type VIII is associated with biallelic pathogenic variants in P3H1 and classically characterized by skeletal anomalies in addition to significant bone fragility, sometimes presenting with in utero fractures and/or neonatal lethality. P3H1 encodes a c …
Autosomal recessive OI type VIII is associated with biallelic pathogenic variants in P3H1 and classically characterized by skeletal anomalie …
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
Palagano E, Susani L, Menale C, Ramenghi U, Berger M, Uva P, Oppo M, Vezzoni P, Villa A, Sobacchi C. Palagano E, et al. J Bone Miner Res. 2017 Jan;32(1):99-105. doi: 10.1002/jbmr.2929. Epub 2016 Sep 7. J Bone Miner Res. 2017. PMID: 27468155 Free article.
Autosomal recessive osteopetroses (AROs) are rare, genetically heterogeneous skeletal diseases with increased bone density that are often lethal if left untreated. A precise molecular classification is relevant for the patient's management, because in some subgroups hemato …
Autosomal recessive osteopetroses (AROs) are rare, genetically heterogeneous skeletal diseases with increased bone density that are often …
Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family.
Ajmal M, Mir A, Wahid S, Khor CC, Foo JN, Siddiqi S, Kauser M, Malik SA, Nasir M. Ajmal M, et al. BMC Med Genet. 2017 Dec 13;18(1):148. doi: 10.1186/s12881-017-0506-4. BMC Med Genet. 2017. PMID: 29237407 Free PMC article.
Sanger sequencing unveiled a novel homozygous deletion c. 624delC in exon 6 of the TCIRG1 gene encodes a3 subunit of V-ATPase complex. The identified deletion resulted in a frame shift producing a truncated protein of 208 aa. In silico analysis of premature termination of …
Sanger sequencing unveiled a novel homozygous deletion c. 624delC in exon 6 of the TCIRG1 gene encodes a3 subunit of V-ATPase complex …
Increased basal activity is a key determinant in the severity of human skeletal dysplasia caused by TRPV4 mutations.
Loukin S, Su Z, Kung C. Loukin S, et al. PLoS One. 2011 May 5;6(5):e19533. doi: 10.1371/journal.pone.0019533. PLoS One. 2011. PMID: 21573172 Free PMC article.
The spectrum of these skeletal dysplasias (SD) ranges from dominantly inherited mild brachylomia (BO) to neonatal lethal forms of metatropic dysplasia (MD). Complexities of the results from fluorescence and electrophysiological studies have led to questions on wheth …
The spectrum of these skeletal dysplasias (SD) ranges from dominantly inherited mild brachylomia (BO) to neonatal lethal forms of met …
Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients.
Yuan P, Yue Z, Sun L, Huang W, Hu B, Yang Z, Hu Y, Xiao H, Shi H, Zhou Q, Wang Y. Yuan P, et al. J Bone Miner Metab. 2011 Mar;29(2):251-6. doi: 10.1007/s00774-010-0228-6. Epub 2010 Nov 2. J Bone Miner Metab. 2011. PMID: 21042819
Infantile malignant osteopetrosis (IMO) (OMIM 259700) is a lethal autosomal recessive disease. The underlying gene in most IMO patients is TCIRG1. ...Both mutations involve loss of part or the whole of the ATPase V0-complex domain of the protein. The father carries …
Infantile malignant osteopetrosis (IMO) (OMIM 259700) is a lethal autosomal recessive disease. The underlying gene in most IMO patien …
Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.
Marshall CJ, Arundel P, Mushtaq T, Offiah AC, Pollitt RC, Bishop NJ, Balasubramanian M. Marshall CJ, et al. Am J Med Genet A. 2016 Dec;170(12):3303-3307. doi: 10.1002/ajmg.a.37943. Epub 2016 Aug 23. Am J Med Genet A. 2016. PMID: 27549894 Free article.
When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor prognosis. It is important to make a diagnosis in antenatal presentation of skeletal dysplasias to inform diagnosis, predict pro …
When a skeletal dysplasia is detected during the antenatal period, especially early in the pregnancy, it can be associated with a poor pr …
Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.
Reuter MS, Schwabe GC, Ehlers C, Marschall C, Reis A, Thiel C, Graul-Neumann L. Reuter MS, et al. Eur J Med Genet. 2013 Dec;56(12):669-73. doi: 10.1016/j.ejmg.2013.10.002. Epub 2013 Oct 17. Eur J Med Genet. 2013. PMID: 24140640
We now describe two patients with osteogenesis imperfecta and novel, so far undescribed mutations in the COL1A2 gene, further highlighting this complexity. A 3-year-old patient presented with features reminiscent of a connective tissue disorder, with joint hypermobility, W …
We now describe two patients with osteogenesis imperfecta and novel, so far undescribed mutations in the COL1A2 gene, further highlighting t …