المؤلفون: Brunkhorst, Max, Brunkhorst, Lena, Martens, Helge, Papizh, Svetlana, Besouw, Martine, Grasemann, Corinna, Turan, Serap, Sikora, Przemyslaw, Chromek, Milan, Cornelissen, Elisabeth, Fila, Marc, Lilien, Marc, Allgrove, Jeremy, Neuhaus, Thomas J., Eltan, Mehmet, Espinosa, Laura, Schnabel, Dirk, Gokce, Ibrahim, González-Rodríguez, Juan David, Khandelwal, Priyanka, Keijzer-Veen, Mandy G., Lechner, Felix, Szczepańska, Maria, Zaniew, Marcin, Bacchetta, Justine, Emma, Francesco, Haffner, Dieter

المصدر: Brunkhorst , M , Brunkhorst , L , Martens , H , Papizh , S , Besouw , M , Grasemann , C , Turan , S , Sikora , P , Chromek , M , Cornelissen , E , Fila , M , Lilien , M , Allgrove , J , Neuhaus , T J , Eltan , M , Espinosa , L , Schnabel , D , Gokce , I , González-Rodríguez , J D , Khandelwal , P , Keijzer-Veen , M G , Lechner , F , Szczepańska , M , Zaniew , M , ....

مصطلحات موضوعية: kidney stones, nephrocalcinosis, phosphate, rickets, SLC34A1, SLC34A3

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/d24173c0-02f7-4576-8820-91b17ddc8c0e
https://research.rug.nl/en/publications/d24173c0-02f7-4576-8820-91b17ddc8c0e
https://doi.org/10.1016/j.kint.2024.08.035
https://pure.rug.nl/ws/files/1175854198/1-s2.0-S0085253824007270-main.pdf
http://www.scopus.com/inward/record.url?scp=85210091958&partnerID=8YFLogxK

المؤلفون: Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, Chun-xiu Gong

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Hypercalcemia, Nephrolithiasis, Idiopathic infantile hypercalcemia, CYP24A1, SLC34A1, Vitamin D, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/06b454efb27349ce93b71675c67b5240

المؤلفون: Jiechuan Qiu, Zicheng Wang, Yingkun Xu, Leizuo Zhao, Peizhi Zhang, Han Gao, Qingliang Wang, Qinghua Xia

المصدر: BMC Urology, Vol 23, Iss 1, Pp 1-18 (2023)

مصطلحات موضوعية: SLC34A1, Clear cell renal cell carcinoma, Diagnosis, Prognostic marker, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2490

URL الوصول: https://doaj.org/article/b5bf0bc88b6e49f099bfc8141511f980

المؤلفون: Aurélia Bertholet-Thomas, Aurélie Portefaix, Sacha Flammier, Carole Dhelens, Fabien Subtil, Laurence Dubourg, Valérie Laudy, Myrtille Le Bouar, Inesse Boussaha, Marietou Ndiaye, Arnaud Molin, Sandrine Lemoine, Justine Bacchetta

المصدر: Trials, Vol 23, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: SLC34A1, SLC34A3, CYP24A1, Hypercalciuria, Fluconazole, 1,25(OH)2D, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1745-6215

URL الوصول: https://doaj.org/article/7560d0c2345148e3b07dc2b952e14639

المؤلفون: Francesca Giusti, Francesca Marini, Hatim Al-alwani, Elena Marasco, Paolo Garagnani, Aliya A. Khan, Maria Luisa Brandi

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 24, p 17289 (2023)

مصطلحات موضوعية: SLC34A1 gene, autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis type 1, genetic testing, gene mutation, recurrent nephrolithiasis, bone mass loss, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/24/17289; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/70e90ac10aed4ecd812bd86753b61700

الاتاحة: https://doi.org/10.3390/ijms242417289
https://doaj.org/article/70e90ac10aed4ecd812bd86753b61700

المؤلفون: Teofana Otilia Bizerea-Moga, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros, Ramona Stroescu

المصدر: Children, Vol 10, Iss 1701, p 1701 (2023)

مصطلحات موضوعية: idiopathic infantile hypercalcemia, nephrocalcinosis, CYP24A1, SLC34A1, Pediatrics, RJ1-570

Relation: https://www.mdpi.com/2227-9067/10/10/1701; https://doaj.org/toc/2227-9067; https://doaj.org/article/761fe7bc89ad43b383a94b156e6867e3

الاتاحة: https://doi.org/10.3390/children10101701
https://doaj.org/article/761fe7bc89ad43b383a94b156e6867e3

المؤلفون: Lujia Wang, Zijian Zhou, Yuanyuan Yang, Peng Gao, Xiaoling Lin, Zhong Wu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: nephrolithiasis, WDR72, DGKH, CLDN14, SLC34A1, HIBADH, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.897051/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/05c441fddf0b4ab1b22e5e652b76c9c8

المؤلفون: Arnaud Molin, Sandrine Lemoine, Martin Kaufmann, Pierre Breton, Marie Nowoczyn, Céline Ballandonne, Nadia Coudray, Hervé Mittre, Nicolas Richard, Amélie Ryckwaert, Alinoe Lavillaureix, Glenville Jones, Justine Bacchetta, Marie-Laure Kottler

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: hypersensitivity to vitamin D, calcitriol induced hypercalcemia, phosphate wasting diseases, vitamin D, CYP24A1- hydroxylase, SLC34A1 gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.736240/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/1aa029400b4e4ef987c1856815b470cc

المؤلفون: Zhang, Junying, Che, Tiantian, Wang, Liting, Sun, Wei, Zhao, Jing, Chen, Jiajia, Liu, Yang, Pu, Qi, Zhang, Yu, Li, Jiani, Li, Zhangfu, Zhu, Zhaojing, Fu, Qihuan, Wang, Xiaoyang, Yuan, Jiangbei

مصطلحات موضوعية: Acute kidney injury, Cisplatin, LPS, Quantitative proteomics, RNA sequencing, Slc34a1, Slc34a3

Relation: http://repository.hkust.edu.hk/ir/Record/1783.1-138500; Journal of Proteomics, v. 302, June 2024, article number 105203; https://doi.org/10.1016/j.jprot.2024.105203; http://lbdiscover.ust.hk/uresolver?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rfr_id=info:sid/HKUST:SPI&rft.genre=article&rft.issn=1874-3919&rft.volume=&rft.issue=&rft.date=2024&rft.spage=&rft.aulast=Zhang&rft.aufirst=Junying&rft.atitle=Proteomics+coupled+transcriptomics+reveals+Slc34a1+and+Slc34a3+downregulation+as+potential+features+of+nephrotoxin-induced+acute+kidney+injury&rft.title=Journal+of+Proteomics; http://www.scopus.com/record/display.url?eid=2-s2.0-85194000398&origin=inward; http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=LinksAMR&SrcApp=PARTNER_APP&DestLinkType=FullRecord&DestApp=WOS&KeyUT=001246960700001

الاتاحة: http://repository.hkust.edu.hk/ir/Record/1783.1-138500
https://doi.org/10.1016/j.jprot.2024.105203
http://lbdiscover.ust.hk/uresolver?url_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rfr_id=info:sid/HKUST:SPI&rft.genre=article&rft.issn=1874-3919&rft.volume=&rft.issue=&rft.date=2024&rft.spage=&rft.aulast=Zhang&rft.aufirst=Junying&rft.atitle=Proteomics+coupled+transcriptomics+reveals+Slc34a1+and+Slc34a3+downregulation+as+potential+features+of+nephrotoxin-induced+acute+kidney+injury&rft.title=Journal+of+Proteomics
http://www.scopus.com/record/display.url?eid=2-s2.0-85194000398&origin=inward
http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=LinksAMR&SrcApp=PARTNER_APP&DestLinkType=FullRecord&DestApp=WOS&KeyUT=001246960700001

المؤلفون: Verjans, Marcelien, Hindryckx, An, Rosier, Karen, Devriendt, Koen, Mekahli, Djalila, Bockenhauer, Detlef

المصدر: Pediatric Nephrology (2024) (In press).

مصطلحات موضوعية: Infantile hypercalcemia type 2, SLC34A1, NaPi2a, nephrocalcinosis, antenatal presentation, phosphate supplementation

Relation: https://discovery.ucl.ac.uk/id/eprint/10193063/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10193063/

المؤلفون: Marini, Francesca, Giusti, Francesca, Marasco, Elena, Xumerle, Luciano, Malgorzata Kwiatkowska, Katarzyna, Garagnani, Paolo, Biver, Emmanuel, Ferrari, Serge Livio, Iolascon, Giovanni, Iantomasi, Teresa, Brandi, Maria Luisa

المصدر: ISSN: 0804-4643 ; European journal of endocrinology, vol. 188, no. 1 (2023) lvad001.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616, SLC34A1 gene, SLC9A3R1 gene, Atypical femur fractures (AFFs), Autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis (NPHLOP), Bone matrix mineralization, Bone Density Conservation Agents / therapeutic use, Diphosphonates / therapeutic use, Femoral Fractures / genetics, Femur / pathology, Humans, Osteoporosis / drug therapy, Radiography, Risk Factors, Sodium-Hydrogen Exchangers / metabolism, Sodium-Phosphate Cotransporter Proteins, Type IIa

Relation: info:eu-repo/semantics/altIdentifier/pmid/36762943; https://archive-ouverte.unige.ch/unige:167400; unige:167400

الاتاحة: https://archive-ouverte.unige.ch/unige:167400

المؤلفون: Visuri, Sofia, Kivisaari, Reetta, Jahnukainen, Timo, Taskinen, Seppo

المساهمون: Lastenkirurgian yksikkö, HUS Children and Adolescents, Clinicum, Department of Diagnostics and Therapeutics, Children's Hospital, HUS Medical Imaging Center, University of Helsinki, Faculty of Medicine

مصطلحات موضوعية: Children, Hydronephrosis, Prenatal, Renal ultrasonography, Vesicoureteral reflux, IDIOPATHIC INFANTILE HYPERCALCEMIA, VITAMIN-D, CYP24A1 MUTATIONS, NEPHROCALCINOSIS, NEPHROLITHIASIS, KIDNEY, GENE, METABOLISM, DIAGNOSIS, SLC34A1, Gynaecology and paediatrics, Surgery, anesthesiology, intensive care, radiology

وصف الملف: application/pdf

Relation: Visuri , S , Kivisaari , R , Jahnukainen , T & Taskinen , S 2018 , ' Postnatal imaging of prenatally detected hydronephrosis-when is voiding cystourethrogram necessary? ' , Pediatric Nephrology , vol. 33 , no. 10 , pp. 1751-1757 . https://doi.org/10.1007/s00467-018-3938-y; http://hdl.handle.net/10138/253484; 6834b7f5-bd76-4ef6-8daa-03b680f3bcca; 85045074696; 000443998400015

الاتاحة: http://hdl.handle.net/10138/253484

المؤلفون: Lujia Wang, Zijian Zhou, Yuanyuan Yang, Peng Gao, Xiaoling Lin, Zhong Wu

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, nephrolithiasis, WDR72, DGKH, CLDN14, SLC34A1, HIBADH, CaSR signaling, Chinese Han population

Relation: https://figshare.com/articles/dataset/DataSheet2_A_Genetic_Polymorphism_in_the_WDR72_Gene_is_Associated_With_Calcium_Nephrolithiasis_in_the_Chinese_Han_Population_zip/20305293

الاتاحة: https://doi.org/10.3389/fgene.2022.897051.s002
https://figshare.com/articles/dataset/DataSheet2_A_Genetic_Polymorphism_in_the_WDR72_Gene_is_Associated_With_Calcium_Nephrolithiasis_in_the_Chinese_Han_Population_zip/20305293

المؤلفون: Kos, Ivanka, Matkovic, Hana, Ban, Maja, Davidovic, Masa, Lovro Lamot, Vrljicak, Kristina

المصدر: Web of Science

مصطلحات موضوعية: idiopathic infantile hypercalcemia, CYP24A1 mutations, SLC34A1 mutatuins, vitamin D, pediatrics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::66813650bffa0c42555cc992803c41ad
https://doi.org/10.1007/s00467-021-05210-9

المؤلفون: Yuping, Ma, Haihong, Lv, Jue, Wang, Jiaojiao, Tan

المصدر: The Journal of International Medical Research

مصطلحات موضوعية: Adult, Heterozygote, NaPi-IIa, Hypophosphatemia, hypophosphatemic kidney stones, DNA Mutational Analysis, Computational Biology, Special issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management, Sodium-Phosphate Cotransporter Proteins, Type IIa, Polymorphism, Single Nucleotide, osteoporosis, Radiography, Kidney Calculi, Bone Density, Mutation, Humans, Female, Genetic Predisposition to Disease, Whole Body Imaging, Disease Susceptibility, DNA sequencing, point mutation, SLC34A1, Alleles

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c9fa0b71d90d28dc915a2aa0ce0063dd
https://pubmed.ncbi.nlm.nih.gov/32216560

المؤلفون: Arnaud Molin (8118110), Sandrine Lemoine (2576143), Martin Kaufmann (2069674), Pierre Breton (11556592), Marie Nowoczyn (11556595), Céline Ballandonne (11556598), Nadia Coudray (11556601), Hervé Mittre (11556604), Nicolas Richard (9364984), Amélie Ryckwaert (11556607), Alinoe Lavillaureix (11556610), Glenville Jones (4503658), Justine Bacchetta (680216), Marie-Laure Kottler (274522)

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, hypersensitivity to vitamin D, calcitriol induced hypercalcemia, phosphate wasting diseases, vitamin D, CYP24A1- hydroxylase, SLC34A1 gene, SLC34A3 gene

Relation: https://figshare.com/articles/dataset/Table_1_Overlapping_Phenotypes_Associated_With_CYP24A1_SLC34A1_and_SLC34A3_Mutations_A_Cohort_Study_of_Patients_With_Hypersensitivity_to_Vitamin_D_xlsx/16801642

الاتاحة: https://doi.org/10.3389/fendo.2021.736240.s001

المؤلفون: Rowińska E, Agnieszka Jacoszek, Janusz Książyk, Aldona Wierzbicka, Ewa Pronicka, Karl P. Schlingmann, Dariusz Rokicki, Paweł Płudowski, Mieczysław Litwin, Paulina Halat, Marek Wójcik, Ewa Wojciechowska, Agnieszka Janiec, Martin Konrad, Elżbieta Ciara

المصدر: Journal of Applied Genetics

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, DNA Mutational Analysis, Idiopathic infantile hypercalcemia, 030209 endocrinology & metabolism, Rickets, Biology, Sodium-Phosphate Cotransporter Proteins, Type IIa, Compound heterozygosity, Gastroenterology, Human Genetics • Short Communication, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, CYP24A1, Internal medicine, Genetics, medicine, Vitamin D and neurology, Adults, Humans, Hypercalciuria, Vitamin D, Vitamin D3 24-Hydroxylase, Vitamin D hypersensitivity, Incidence (epidemiology), Homozygote, General Medicine, Biallelic mutations, medicine.disease, Nephrocalcinosis, 030104 developmental biology, Endocrinology, Mutation, Failure to thrive, Hypercalcemia, Female, Poland, medicine.symptom, SLC34A1

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f781ba4ea56939d327f22e0af047ac47
https://doi.org/10.1007/s13353-017-0397-2

المؤلفون: Chen, Xiang, Xie, Ying, Wan, Shan, Xu, Jin, Cai, Bei, Zhang, Yi, Yu, Xijie

المصدر: Medicine

مصطلحات موضوعية: hypophosphatemia, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, heterozygous mutation, Mutation, Missense, Phosphorus, urologic and male genital diseases, Sodium-Phosphate Cotransporter Proteins, Type IIa, autosomal dominant hypophosphatemia, Humans, Clinical Case Report, Familial Hypophosphatemic Rickets, SLC34A1, Research Article, Rickets

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::c36dac4b348e3ce6084e9e608818d727
http://europepmc.org/articles/PMC6531229

المؤلفون: Molin, Arnaud, Breton, Philippe, Ballandonne, Céline, Coudray, Nadia, Kottler, Marie-Laure

المساهمون: Service de Génétique CHU Caen, Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Normandie Université (NU)-Normandie Université (NU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Normandie Université (NU)

المصدر: 35ème Congrès Société Française d'Endocrinologie
https://hal.science/hal-02392274
35ème Congrès Société Française d'Endocrinologie, Sep 2018, Nancy, France

مصطلحات موضوعية: CYP24A1, SLC34A1, SLC34A3, hypersensibilité à la vitamine D, HVD, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

جغرافية الموضوع: Nancy, France

Relation: hal-02392274; https://hal.science/hal-02392274

الاتاحة: https://hal.science/hal-02392274

المؤلفون: De Paolis E., Scaglione G. L., De Bonis M., Minucci A., Capoluongo

المساهمون: De Paolis, E., Scaglione, G. L., De Bonis, M., Minucci, A., Capoluongo, Ettore Domenico

مصطلحات موضوعية: calcium, CYP24A1, idiopathic infantile hypercalcemia, phosphate, SLC34A1, vitamin D

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000489114100011; volume:57; issue:11; firstpage:1650; lastpage:1667; journal:CLINICAL CHEMISTRY AND LABORATORY MEDICINE; http://hdl.handle.net/11588/777987; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85067459430; http://www.reference-global.com/toc/cclm/current

الاتاحة: http://hdl.handle.net/11588/777987
https://doi.org/10.1515/cclm-2018-1208
http://www.reference-global.com/toc/cclm/current