cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.24798924.v1
title: Supplementary Material for: Novel variants of HPS6 cause suspected ocular albinism: A report of two cases and the profile of HPS6 variants

description: Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by ocular albinism (OA) or oculocutaneous albinism (OCA), platelet dysfunction and other symptoms. This study aimed to analyze the molecular defect in two Chinese families with suspected OA, as well as to investigate the profile of HPS6 variants and their genotype-phenotype correlations.
Methods: Seven members from two families were recruited and underwent clinical ophthalmologic examinations. The genomic DNA was extracted from peripheral blood leukocytes. Whole-exome sequencing was performed on the proband of Family JX. The single coding exon of HPS6 was directly Sanger sequenced based on PCR amplification in all available family members. An additional 46 probands from families or sporadic cases with the pathogenic variants of HPS6 reported in the literatures were reviewed.
Results: We identified two different compound heterozygous truncating variants of HPS6 in probands with suspected OA from two independent families. The proband of Family JX had c.1674dup and c.503-504del variants, and the other proband from Family CZ had a nonsense variant of c.1114C&gt;T and a frameshift variant of c.1556del. Among them, c.1674dup and c.1556del variants in HPS6 have not been reported previously. Therefore, our patients were diagnosed as HPS6 disease by molecular diagnostics. In the retrospective cohort of HPS6 patients, we delineated the profile of HPS6 variants and revealed a significant overlap between CpG islands and variants of HPS6, suggesting a potential link between DNA methylation and HPS6 variants. We also observed a spatial aggregation of the variants in 3D structure of HPS6 protein, implying the possible functional significance of these structural regions. In addition, we did not find any significant genotype-phenotype correlation of HPS6, and neither did we observe a correlation between the truncation length of the HPS6 protein and the phenotype of HPS6 disease.
Conclusion: Our research expands the spectrum of HPS6 variants, providing a comprehensive delineation of their profile and systematically investigating genotype-phenotype correlations in HPS6. These findings could offer potentially valuable clues for investigating the molecular mechanism underlying HPS6 pathogenesis, as well as aiding the clinical diagnosis of HPS6 patients and improving disease prognosis.
DOI: 10.6084/m9.figshare.24798924
title: Supplementary Material for: Novel variants of HPS6 cause suspected ocular albinism: A report of two cases and the profile of HPS6 variants

description: Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by ocular albinism (OA) or oculocutaneous albinism (OCA), platelet dysfunction and other symptoms. This study aimed to analyze the molecular defect in two Chinese families with suspected OA, as well as to investigate the profile of HPS6 variants and their genotype-phenotype correlations.
Methods: Seven members from two families were recruited and underwent clinical ophthalmologic examinations. The genomic DNA was extracted from peripheral blood leukocytes. Whole-exome sequencing was performed on the proband of Family JX. The single coding exon of HPS6 was directly Sanger sequenced based on PCR amplification in all available family members. An additional 46 probands from families or sporadic cases with the pathogenic variants of HPS6 reported in the literatures were reviewed.
Results: We identified two different compound heterozygous truncating variants of HPS6 in probands with suspected OA from two independent families. The proband of Family JX had c.1674dup and c.503-504del variants, and the other proband from Family CZ had a nonsense variant of c.1114C&gt;T and a frameshift variant of c.1556del. Among them, c.1674dup and c.1556del variants in HPS6 have not been reported previously. Therefore, our patients were diagnosed as HPS6 disease by molecular diagnostics. In the retrospective cohort of HPS6 patients, we delineated the profile of HPS6 variants and revealed a significant overlap between CpG islands and variants of HPS6, suggesting a potential link between DNA methylation and HPS6 variants. We also observed a spatial aggregation of the variants in 3D structure of HPS6 protein, implying the possible functional significance of these structural regions. In addition, we did not find any significant genotype-phenotype correlation of HPS6, and neither did we observe a correlation between the truncation length of the HPS6 protein and the phenotype of HPS6 disease.
Conclusion: Our research expands the spectrum of HPS6 variants, providing a comprehensive delineation of their profile and systematically investigating genotype-phenotype correlations in HPS6. These findings could offer potentially valuable clues for investigating the molecular mechanism underlying HPS6 pathogenesis, as well as aiding the clinical diagnosis of HPS6 patients and improving disease prognosis.
DOI: 10.6084/m9.figshare.24798930
title: Supplementary Material for: Novel variants of HPS6 cause suspected ocular albinism: A report of two cases and the profile of HPS6 variants

description: Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease characterized by ocular albinism (OA) or oculocutaneous albinism (OCA), platelet dysfunction and other symptoms. This study aimed to analyze the molecular defect in two Chinese families with suspected OA, as well as to investigate the profile of HPS6 variants and their genotype-phenotype correlations.
Methods: Seven members from two families were recruited and underwent clinical ophthalmologic examinations. The genomic DNA was extracted from peripheral blood leukocytes. Whole-exome sequencing was performed on the proband of Family JX. The single coding exon of HPS6 was directly Sanger sequenced based on PCR amplification in all available family members. An additional 46 probands from families or sporadic cases with the pathogenic variants of HPS6 reported in the literatures were reviewed.
Results: We identified two different compound heterozygous truncating variants of HPS6 in probands with suspected OA from two independent families. The proband of Family JX had c.1674dup and c.503-504del variants, and the other proband from Family CZ had a nonsense variant of c.1114C&gt;T and a frameshift variant of c.1556del. Among them, c.1674dup and c.1556del variants in HPS6 have not been reported previously. Therefore, our patients were diagnosed as HPS6 disease by molecular diagnostics. In the retrospective cohort of HPS6 patients, we delineated the profile of HPS6 variants and revealed a significant overlap between CpG islands and variants of HPS6, suggesting a potential link between DNA methylation and HPS6 variants. We also observed a spatial aggregation of the variants in 3D structure of HPS6 protein, implying the possible functional significance of these structural regions. In addition, we did not find any significant genotype-phenotype correlation of HPS6, and neither did we observe a correlation between the truncation length of the HPS6 protein and the phenotype of HPS6 disease.
Conclusion: Our research expands the spectrum of HPS6 variants, providing a comprehensive delineation of their profile and systematically investigating genotype-phenotype correlations in HPS6. These findings could offer potentially valuable clues for investigating the molecular mechanism underlying HPS6 pathogenesis, as well as aiding the clinical diagnosis of HPS6 patients and improving disease prognosis.
DOI: 10.5517/ccdc.csd.cc2fr0v2
title: CCDC 2256454: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2fr0x4
title: CCDC 2256456: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2fr0y5
title: CCDC 2256457: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2fr0z6
title: CCDC 2256458: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2fr14d
title: CCDC 2256463: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2fr17h
title: CCDC 2256466: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2fr18j
title: CCDC 2256467: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2fr4hv
title: CCDC 2256567: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gjhgz
title: CCDC 2279971: Experimental Crystal Structure Determination

description: Related Article: Dongping Pan, Fu-Xiaomin Liu, Zhongyi Zeng, Junwei Ye, Ying Cai, Shengdong Wang, Zhi Zhou, Wei Yi|2023|Green Chemistry|25|10630|doi:10.1039/D3GC03203E
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gjhh0
title: CCDC 2279972: Experimental Crystal Structure Determination

description: Related Article: Dongping Pan, Fu-Xiaomin Liu, Zhongyi Zeng, Junwei Ye, Ying Cai, Shengdong Wang, Zhi Zhou, Wei Yi|2023|Green Chemistry|25|10630|doi:10.1039/D3GC03203E
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gjhj1
title: CCDC 2279973: Experimental Crystal Structure Determination

description: Related Article: Dongping Pan, Fu-Xiaomin Liu, Zhongyi Zeng, Junwei Ye, Ying Cai, Shengdong Wang, Zhi Zhou, Wei Yi|2023|Green Chemistry|25|10630|doi:10.1039/D3GC03203E
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2fr19k
title: CCDC 2256468: Experimental Crystal Structure Determination

description: Related Article: Balakrishna Peddi, Souvik Khan, Rajesh G. Gonnade, Cem B. Yildiz, Moumita Majumdar|2023|Chemical Science|14|13755|doi:10.1039/D3SC03717G
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqc7t
title: CCDC 2285606: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqcbx
title: CCDC 2285609: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqccy
title: CCDC 2285610: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqcdz
title: CCDC 2285611: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqcf0
title: CCDC 2285612: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqcg1
title: CCDC 2285613: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqch2
title: CCDC 2285614: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqcj3
title: CCDC 2285615: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2gqck4
title: CCDC 2285616: Experimental Crystal Structure Determination

description: Related Article: Avinash Madhesiya, Sibananda G. Dash, Princi Gupta, Abdul Akhir, Deepanshi Saxena, Rahul Maitra, Sidharth Chopra, Tejender S. Thakur|2023|CrystEngComm|25|6758|doi:10.1039/D3CE00948C
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2h5zg4
title: CCDC 2299656: Experimental Crystal Structure Determination

description: Related Article: Pablo Labra-Vázquez, Erika Rocha, Yue Xiao, Marine Tassé, Carine Duhayon, Norberto Farfán, Rosa Santillan, Laure Gibot, Pascal G. Lacroix, Isabelle Malfant|2023|Dalton Trans.|52|18177|doi:10.1039/D3DT03480A
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.5517/ccdc.csd.cc2h9fpy
title: CCDC 2302980: Experimental Crystal Structure Determination

description: Related Article: Duqingcuo Li, Yichen Liu, Ruifang Xiang, Yuyan Li, Tianrui Qin, Xiu Yan Dong, Hiroshi Sakiyama, Mohd. Muddassir, Jianqiang Liu|2023|CrystEngComm|25|6777|doi:10.1039/D3CE01060K
description: An entry from the Cambridge Structural Database, the world’s repository for small molecule crystal structures. The entry contains experimental data from a crystal diffraction study. The deposited dataset for this entry is freely available from the CCDC and typically includes 3D coordinates, cell parameters, space group, experimental conditions and quality measures.
DOI: 10.6084/m9.figshare.24798876.v1
title: Keleman et al_eDNA_GB_dataset

description: This is a complete database of metabarcodes for fish diversity in the mangroves of Guinea-Bissau.It includes the sequences generated specifically from 49 eOTUs. Each taxa has been sequenced with a 12S marker: a 106 bp fragment using EcoPrimers by (Kelly et al., 2014; Riaz et al., 2011).The Excel file consists of three tabs:- BOLD tab: the taxonomic assignment of the obtained eOTUs- Reads tab: the reads of each eOTU per sample- Replicate tab: the characterization of each water sample
DOI: 10.5281/zenodo.10370525
title: First report of cutaneous leishmaniasis caused by Leishmania donovani in Ethiopia
DOI: 10.17028/rd.lboro.16438377.v1
title: The role of domain-general and domain-specific skills in the identification of arithmetic strategies - Data

description: Data for all tasks.<br>
DOI: 10.17028/rd.lboro.16438377
title: The role of domain-general and domain-specific skills in the identification of arithmetic strategies - Data

description: Data for all tasks.<br>
DOI: 10.5281/zenodo.10370524
title: First report of cutaneous leishmaniasis caused by Leishmania donovani in Ethiopia