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H

Harald Jüppner

Harvard University

77H指数
480论文数
2.4W被引数
收录论文 130
发表时间
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Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B1B型假性甲状旁腺功能减退症中由于剪接位点变异导致的GNAS印记缺陷
errJCI INSIGHT
IF6.1
err2025-10-08
err0
errOAAI
errIwasaki, Yorihiro; Reyes, Monica; Molin, Arnaud; Muurinen, Mari; Kottler, Marie-Laure; Bastepe, Murat; Juppner, Harald
err分享
err收藏
The evolution of hominin bipedalism in two steps人科动物双足行走的两步演化
errNature
IF48.5
err2025-08-27
err0
errOAAI
errGayani Senevirathne; Serena C. Fernandopulle; Daniel Richard; Stephanie L. Baumgart; Anika Liv Christensen; Matteo Fabbri; Jakob Höppner; Harald Jüppner; Peishu Li; Vivien Bothe; Nadia Fröbisch; Ian Simcock; Owen J. Arthurs; Alistair Calder; Naomi Freilich; Niamh C. Nowlan; Ian A. Glass; April Craft; Terence D. Capellini
err分享
err收藏
Human diseases caused by homozygous PTH1R mutations由纯合PTH1R基因突变引起的人类疾病
errFrontiers in Endocrinology
IF4.6
err2025-08-20
err0
errOAAI
errIgnacio Portales-Castillo; Jakob Höppner; Harald Jüppner; Thomas J. Gardella
err分享
err收藏
Bidirectional disruption of GNAS transcripts causes broad methylation defects in pseudohypoparathyroidism type 1BGNAS转录本的双向破坏导致假性甲状旁腺功能减退症1B型出现广泛的甲基化缺陷
errPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
err2025-04-18
err0
errOAAI
errIwasaki, Yorihiro; Reyes, Monica; Ryabets-Lienhard, Anna; Gales, Barbara; Linglart, Agnes; Miller, Danny E.; Salusky, Isidro B.; Bastepe, Murat; Juppner, Harald
err分享
err收藏
Hypocalcemic Tetany Transiently “Cured” by Pregnancy: A Case Report低钙血症性手足搐搦症经妊娠暂时“治愈”：一例病例报告
errAmerican Journal of Kidney Diseases
IF8.2
err2025-03-17
err0
PREAI
errShilpa Sannapaneni; Sathya Krishnasamy; Monica Reyes; Harald Jüppner; Eleanor D. Lederer
err分享
err收藏
Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia
errJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
IF5.1
err2025-02-14
err0
errOAAI
errPereira, Renata C.; Delany, Anne M.; Reyes, Monica; Gales, Barbara; Juppner, Harald; Salusky, Isidro B.
err分享
err收藏
Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations
errJBMR PLUS
IF2.4
err2024-11-26
err0
errOAAI
errObiezu, Fiona; Almpani, Konstantinia; Kim, Hung Jeffrey; Zalewski, Christopher; Chu, Emily; Jahanmir, Golnar; Roszko, Kelly L.; Boyce, Alison; Farhadi, Faraz; Weinstein, Lee S.; Gafni, Rachel, I; Ferreira, Carlos R.; Juppner, Harald; Collins, Michael T.; Lee, Janice S.; Jha, Smita
err分享
err收藏
Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis
errJOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
err2024-09-14
err0
PREAI
errCalder, Alistair D.; Allgrove, Jeremy; Hoppner, Jakob; Cheung, Moira; Alexander, Saji; Garagnani, Lorenzo; Thakker, Rajesh; Juppner, Harald; Gardella, Thomas J.; Holder-Espinasse, Muriel
err分享
err收藏
Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia
errNEW ENGLAND JOURNAL OF MEDICINE
IF78.5
err2024-07-11
err0
PREAI
errJacobsen, Christina; Juppner, Harald; Mitchell, Deborah M.
err分享
err收藏
Backbone Modification Provides a Long-Acting Inverse Agonist of Pathogenic, Constitutively Active PTH1R Variants
errJOURNAL OF THE AMERICAN CHEMICAL SOCIETY
IF15.6
err2024-02-28
err1
PREAI
errLiu, Shi; Daley, Eileen J.; Tran, Lauren My-Linh; Yu, Zhen; Reyes, Monica; Dean, Thomas; Khatri, Ashok; Levine, Paul M.; Balana, Aaron T.; Pratt, Matthew R.; Juppner, Harald; Gellman, Samuel H.; Gardella, Thomas J.
err分享
err收藏
GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1B
errJCI INSIGHT
IF6.1
err2024-01-30
err1
errOAAI
errIwasaki, Yorihiro; Reyes, Monica; Jueppner, Harald; Bastepe, Murat
err分享
err收藏
1,25-Dihydroxyvitamin D3 regulates furin- mediated FGF23 cleavage
errJCI INSIGHT
IF6.1
err2023-09-08
err6
errOAAI
errXie, Han; Bastepe, Isinsu; Zhou, Wen; Ay, Birol; Ceraj, Zara; Portales-Castillo, Ignacio A.; Liu, Eva S.; Burnett-Bowie, Sherri-Ann M.; Juppner, Harald; Rhee, Eugene P.; Bastepe, Murat; Simic, Petra
err分享
err收藏
Substantially Delayed Maturation of Growth Plate Chondrocytes in Humanized PTH1R Mice with the H223R Mutation of Jansen's Disease具有Jansen病H223R突变的人源化PTH1R小鼠的生长板软骨细胞的成熟大大延迟
errJBMR PLUS
IF2.4
err2023-08-15
err4
errOAAI
errReyes, Monica; Firat, Damla; Hanna, Patrick; Khan, Mohd; Bruce, Michael; Shvedova, Maria; Kobayashi, Tatsuya; Schipani, Ernestina; Gardella, Thomas J.; Juppner, Harald
err分享
err收藏
Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
errEUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
err2023-07-13
err2
errOAAI
errErtl, Diana-Alexandra; de Nanclares, Guiomar Perez; Juppner, Harald; Hanna, Patrick; Pagnano, Angela; Pereda, Arrate; Rothenbuhler, Anya; Del Sindaco, Giulia; Ruiz-Cuevas, Pilar; Audrain, Christelle; Escribano, Arancha; Berkenou, Jugurtha; Gleiss, Andreas; Mantovani, Giovanna; Linglart, Agnes
err分享
err收藏
Altered Signaling and Desensitization Responses in PTH1R Mutants Associated with Eiken Syndrome
errCOMMUNICATIONS BIOLOGY
IF5.1
err2023-06-02
err5
errOAAI
errPortales-Castillo, Ignacio; Dean, Thomas; Cheloha, Ross W.; Creemer, Brendan A.; Vilardaga, Jean-Pierre; Savransky, Sofya; Khatri, Ashok; Juppner, Harald; Gardella, Thomas J.
err分享
err收藏
Kidney glycolysis serves as a mammalian phosphate sensor that maintains phosphate homeostasis
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2023-04-17
err35
errOAAI
errZhou, Wen; Simic, Petra; Zhou, Iris Y.; Caravan, Peter; Parada, Xavier Vela; Wen, Donghai; Washington, Onica L.; Shvedova, Maria; Pierce, Kerry A.; Clish, Clary B.; Mannstadt, Michael; Kobayashi, Tatsuya; Wein, Marc N.; Juppner, Harald; Rhee, Eugene P.
err分享
err收藏
Homozygous Ser-1 to Pro-1 mutation in parathyroid hormone identified in hypocalcemic patients results in secretion of a biologically inactive pro-hormone
errPROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
IF9.1
err2023-02-16
err3
errOAAI
errHanna, Patrick; Khatri, Ashok; Choi, Shawn; Brabant, Severine; Gild, Matti L.; Piketty, Marie L.; Francou, Bruno; Prie, Dominique; Potts Jr, John T.; Clifton-Bligh, Roderick J.; Linglart, Agnes; Gardella, Thomas J.; Juppner, Harald
err分享
err收藏
Targeted Long-Read Sequencing Identifies a Retrotransposon Insertion as a Cause of Altered GNAS Exon A/B Methylation in a Family With Autosomal Dominant Pseudohypoparathyroidism Type 1b (PHP1B)
errJOURNAL OF BONE AND MINERAL RESEARCH
IF5.9
err2022-07-10
err17
errOAAI
errMiller, Danny E.; Hanna, Patrick; Galey, Miranda; Reyes, Monica; Linglart, Agnes; Eichler, Evan E.; Juppner, Harald
err分享
err收藏
Actions of Parathyroid Hormone Ligand Analogues in Humanized PTH1R Knockin Mice
errENDOCRINOLOGY
IF3.3
err2022-04-23
err5
errOAAI
errDaley, Eileen J.; Yoon, Sung-Hee; Reyes, Monica; Bruce, Michael; Brooks, Daniel J.; Bouxsein, Mary; Potts, John T.; Kronenberg, Henry M.; Wein, Marc N.; Lanske, Beate; Juppner, Harald; Gardella, Thomas J.
err分享
err收藏
Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism
errJBMR PLUS
IF2.4
err2022-04-14
err4
errOAAI
errPortales-Castillo, Ignacio; Dean, Thomas; Khatri, Ashok; Juppner, Harald; Gardella, Thomas J.
err分享
err收藏

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