3,022 research outputs found
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis
No full textReport of Another Mutation Proven Case of Carbonic Anhydrase II Deficiency
No full textCarbonic anhydrase (CA) II deficiency results in an uncommon type of autosomal recessive sclerosing bone dysplasia with renal tubular acidosis and intracerebral calcification. We report a classic case of CA II-associated osteopetrosis with a previously reported homozygous frameshift mutation. Child was evaluated for short stature and failure to thrive. He was diagnosed as osteopetrosis in view of the presence of hepatosplenomegaly and increased bone density though hematological parameters were normal. Further evaluation showed presence of associated distal renal tubular acidosis raising a possibility of CA II deficiency. Mutation analysis revealed a previously reported homozygous frameshift mutation c.143-146delCTGT (p.Ser48Phefs 9) in CA2. Child has normal growth after initiation of alkali therapy
sj-docx-2-cpc-10.1177_10556656211052781 - Supplemental material for Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel <i>LOXL3</i> Mutation
No full textSupplemental material, sj-docx-2-cpc-10.1177_10556656211052781 for Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation by Anubhuti Sood, Uzma Shamim, Om P. Kharbanda, Madhulika Kabra, Neerja Gupta, Aradhana Mathur, Aditi Joshi, Shaista Parveen, Sana Zahra, Pooja Sharma, Malika Seth, Afreen Khan, Mohammed Faruq and Deepika Mishra in The Cleft Palate-Craniofacial Journal</p
Novel mutations in Indian patients with autosomal recessive infantile malignant osteopetrosis
No full textsj-docx-1-cpc-10.1177_10556656211052781 - Supplemental material for Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel <i>LOXL3</i> Mutation
No full textSupplemental material, sj-docx-1-cpc-10.1177_10556656211052781 for Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation by Anubhuti Sood, Uzma Shamim, Om P. Kharbanda, Madhulika Kabra, Neerja Gupta, Aradhana Mathur, Aditi Joshi, Shaista Parveen, Sana Zahra, Pooja Sharma, Malika Seth, Afreen Khan, Mohammed Faruq and Deepika Mishra in The Cleft Palate-Craniofacial Journal</p
Data for Gupta et al., "Estimating the Meridional Extent of Adiabatic Mixing in the Stratosphere using Age-of-Air", JGR:Atmospheres,
No full textModel data and post-processed data supporting the creation of the manuscript "Estimating the Meridional Extent of Adiabatic Mixing in the Stratosphere using Age-of-Air" submitted to JGR:Atmospheres in August 2022.
1) The netCDF files created through post-processing of full model data in FORTRAN are shared in the /data/ directory. These file contains the zonal mean circulation statistics based on Gupta et al. (2020), age-of-air transport diagnostics based on Linz et al. (2021), and the novel \Gamma-\Theta circulation streamfunction introduced in this study. The /data/ directory also contains MATLAB .mat data files for the transport diagnostics obtained from WACCM. 150 days of actual GFDL-FV3 model data in the northern hemisphere, between 0.1 hPa-500 hPa pressure levels is also provided to support external computations and validation.
2) The Jupyter notebook used for final computation and figures production is provided in .ipynb, .html and .pdf formats in /code/. All the files referred to in the notebook are stored in the /data/ directory.
Corresponding author : Aman Gupta, [email protected], [email protected], [email protected]
Corrigendum: Capital Inflows and House Prices: Aggregate and Regional Evidence from China
No full textIn the paper ‘Capital Inflows and House Prices: Aggregate and Regional Evidence from China’ by H. An, et al., printed in the December 2016 issue, there was a missing acknowledgement section for funding resources.
On page 451, the acknowledgement section should appear after the corresponding information as:
“Correspondence: Rakesh Gupta, Department of Accounting, Finance and Economics, Griffith Business School, Griffith University, Nathan Campus QLD 4111. [email protected]
*This work was financially supported by the Humanities and Social Science Foundation of Ministry of Education of China (16YJA790001).”
The author apologises for this error and any confusion it may have caused.No Full Tex
First person – Akash Gupta
No full textFirst Person is a series of interviews with the first authors of a selection of papers published in Biology Open, helping early-career researchers promote themselves alongside their papers. Akash Gupta is first author on ‘A novel and cost-effective ex vivo orthotopic model for the study of human breast cancer in mouse mammary gland organ culture’, published in BiO. Akash conducted the research described in this article while a PhD Scholar in Rajendra Mehta's lab at IIT Research Institute, Chicago, USA. He is now an assistant research scientist in the lab of Syreeta L. Tilghman at the University of Arizona, Department of Medicine, Tucson, USA, investigating drug efficacy modeling using human organoids culture for the treatment of cancers
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