The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network
Elli, Francesca Marta, Linglart, Agnès, Garin, Intza, de Sanctis, Luisa, Bordogna, Paolo, Grybek, Virginie, Pereda, Arrate, Giachero, Federica, Verrua, Elisa, Hanna, Patrick, Mantovani, Giovanna, Perez de Nanclares, Guiomar
Published in The journal of clinical endocrinology and metabolism (01.10.2016)
Published in The journal of clinical endocrinology and metabolism (01.10.2016)
Get full text
Journal Article
Substantially Delayed Maturation of Growth Plate Chondrocytes in "Humanized" PTH1R Mice with the H223R Mutation of Jansen's Disease
Reyes, Monica, Firat, Damla, Hanna, Patrick, Khan, Mohd, Bruce, Michael, Shvedova, Maria, Kobayashi, Tatsuya, Schipani, Ernestina, Gardella, Thomas J, Jüppner, Harald
Published in JBMR plus (01.10.2023)
Published in JBMR plus (01.10.2023)
Get full text
Journal Article
Probing the Mechanism of Hamster Arylamine N-Acetyltransferase 2 Acetylation by Active Site Modification, Site-Directed Mutagenesis, and Pre-Steady State and Steady State Kinetic Studies
Wang, Haiqing, Vath, Gregory M, Gleason, Kara J, Hanna, Patrick E, Wagner, Carston R
Published in Biochemistry (Easton) (29.06.2004)
Published in Biochemistry (Easton) (29.06.2004)
Get full text
Journal Article
Eukaryotic arylamine N-acetyltransferase. Investigation of substrate specificity by high-throughput screening
Kawamura, Akane, Graham, James, Mushtaq, Adeel, Tsiftsoglou, Stefanos A, Vath, Gregory M, Hanna, Patrick E, Wagner, Carston R, Sim, Edith
Published in Biochemical pharmacology (15.01.2005)
Published in Biochemical pharmacology (15.01.2005)
Get full text
Journal Article
Catalytic Mechanism of Hamster Arylamine N-Acetyltransferase 2
Wang, Haiqing, Liu, Li, Hanna, Patrick E, Wagner, Carston R
Published in Biochemistry (Easton) (23.08.2005)
Published in Biochemistry (Easton) (23.08.2005)
Get full text
Journal Article
Arylamine N-Acetyltransferases: Characterization of the Substrate Specificities and Molecular Interactions of Environmental Arylamines with Human NAT1 and NAT2
Liu, Li, Von Vett, Annette, Zhang, Naixia, Walters, Kylie J, Wagner, Carston R, Hanna, Patrick E
Published in Chemical research in toxicology (01.09.2007)
Published in Chemical research in toxicology (01.09.2007)
Get full text
Journal Article
Arylamine N-acetyltransferase Aggregation and Constitutive Ubiquitylation
Liu, Fen, Zhang, Naixia, Zhou, Xin, Hanna, Patrick E., Wagner, Carston R., Koepp, Deanna M., Walters, Kylie J.
Published in Journal of molecular biology (18.08.2006)
Published in Journal of molecular biology (18.08.2006)
Get full text
Journal Article
Probing the catalytic potential of the hamster arylamine N-acetyltransferase 2 catalytic triad by site-directed mutagenesis of the proximal conserved residue, Tyr190
Zhou, Xin, Zhang, Naixia, Liu, Li, Walters, Kylie J, Hanna, Patrick E, Wagner, Carston R
Published in The FEBS journal (01.12.2009)
Published in The FEBS journal (01.12.2009)
Get full text
Journal Article
Catalytic Mechanism of Hamster Arylamine N-Acetyltransferase 2
Wang, Haiqing, Liu, Li, Hanna, Patrick E, Wagner, Carston R
Published in Biochemistry (Easton) (06.12.2005)
Published in Biochemistry (Easton) (06.12.2005)
Get full text
Journal Article
A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2
Hanna, Patrick, Francou, Bruno, Delemer, Brigitte, Jüppner, Harald, Linglart, Agnès
Published in The journal of clinical endocrinology and metabolism (01.09.2021)
Published in The journal of clinical endocrinology and metabolism (01.09.2021)
Get full text
Journal Article
Autosomal Dominant Fanconi Syndrome and CKD Associated With Glycine Amidinotransferase Mutation: A Rare Genetic Syndrome: SA-PO528
Portales Castillo, Ignacio A., Hanna, Patrick, Lundquist, Andrew L., Jüppner, Harald, Traum, Avi, Allegretti, Andrew S.
Published in Journal of the American Society of Nephrology (01.11.2022)
Published in Journal of the American Society of Nephrology (01.11.2022)
Get full text
Journal Article
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)
Miller, Danny E, Hanna, Patrick, Galey, Miranda, Reyes, Monica, Linglart, Agnès, Eichler, Evan E, Jüppner, Harald
Published in Journal of bone and mineral research (01.09.2022)
Published in Journal of bone and mineral research (01.09.2022)
Get full text
Journal Article