Publications by authors named "Jose Millan"

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Proof-of-principle for enhanced dentoalveolar mineralization using exogenous tissue-nonspecific alkaline phosphatase in the mouse model of X-linked hypophosphatemia.
Aonjittra Phanrungsuwan, Bella Donnelly, Fatma F Mohamed, Kedith Sawangsri, Karli Belgya

JBMR Plus· December 2025

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Genetic reduction or deletion of osteopontin in osteomalacic mice fails to ameliorate dentoalveolar defects.
Aonjittra Phanrungsuwan, Bella Donnelly, Jinju Kim, Jack Sweet, Flavia Amadeu de Oliveira

JBMR Plus· December 2025

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N-linked glycosylation plays an essential role in the stability and function of tissue-nonspecific alkaline phosphatase.
Diana Atanasova, Ali Saad Kusay, Lavanya Moparthi, Stefan Koch, Mathias Haarhaus

J Biol Chem· December 2025

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Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.
Lidón Carretero-Vilarroig, Rosana Blanco-Máñez, Noelia Muñoz-Fernández, Isabel Ibáñez, Alba Berzal-Serrano

Mol Diagn Ther· November 2025

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Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Anna Esteve-Garcia, Ariadna Padró-Miquel, Jaume Català-Mora, Cristina Sau, Delia Yubero

Eye (Lond)· November 2025

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RetiGene, a comprehensive gene atlas for inherited retinal diseases.
Carlo Rivolta, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska

Am J Hum Genet· October 2025

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ENPP1 inhibition as a therapeutic approach for later-onset hypophosphatasia.
Sonoko Narisawa, Flavia Amadeu de Oliveira, Cintia Kazuko Tokuhara, Elis J Lira Dos Santos, Elena Fonfria, Jose Luis Millan

J Bone Miner Res· October 2025

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Hypophosphatasia - Pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments.
Jose Luis Millán

J Bone Miner Res· October 2025

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Targeted Alkaline Phosphatase Therapy Enhances Alveolar Bone Healing in X-Linked Hypophosphatemia in Mice.
Aonjittra Phanrungsuwan, Bella Donnelly, José Luis Millán, Brian L Foster

J Periodontal Res· October 2025

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Impact of fermented foods consumption on gastrointestinal wellbeing in healthy adults: a systematic review and meta-analysis.
Arghya Mukherjee, Dominic N Farsi, Enriqueta Garcia-Gutierrez, Ecem Akan, Jose Angel Salas Millan

Front Nutr· October 2025

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TNAP dephosphorylates phosphocholine and phosphoethanolamine and participates in triglyceride transport from the liver to the bloodstream.
Eva Drevet Mulard, Iliass Imam, Pierre-Damien Coureux, Anne Briolay, Laurence Bessueille, Jose Luis Millan

Commun Biol· October 2025

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Early-stage therapeutic efficacy of TNAP inhibition using a novel milder murine model of CKD-MBD.
Kaori Soma, José Luis Millán, Anthony Pinkerton, Masanori Izumi

Exp Anim· September 2025

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RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs).
Mathieu Quinodoz, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska

bioRxiv· June 2025

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Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.
Belén García-Bohórquez, Purificación Marín-Reina, Elena Aller, Pilar Barberán-Martínez, Miguel Armengot

Hum Genomics· May 2025

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Ciliary Motility and Ultrastructure in Bronchial Epithelium of Lung Transplant Recipients with Primary Ciliary Dyskinesia.
Miguel Armengot, Catalina Bancalari, Lidón Carretero-Vilarroig, Rosana Blanco-Máñez, Noelia Muñoz-Fernández

J Clin Med· May 2025

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Distinct bone metabolic networks identified in 1 mice vs. wild type mice using [F]FDG total-body PET.
Abigail F Hellman, Paul S Clegg, Colin Farquharson, José Luis Millán, Carlos J Alcaide-Corral

Front Med (Lausanne)· May 2025

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Personalized whole-brain activity patterns predict human corticospinal tract activation in real-time.
Uttara U Khatri, Kristen Pulliam, Muskan Manesiya, Melanie Vieyra Cortez, José Del R Millán

Brain Stimul· April 2025

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Preclinical evaluation of the efficacy and safety of adeno-associated virus 8-tissue-nonspecific alkaline phosphatase-D10 in Alpl-/- and AlplPrx1/Prx1 mouse models for the treatment of early and late-onset hypophosphatasia.
Flavia Amadeu de Oliveira, Cintia Kazuko Tokuhara, Fatma F Mohamed, Sonoko Narisawa, Elis J Lira Dos Santos

J Bone Miner Res· April 2025

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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens

Am J Hum Genet· April 2025

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Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies.
Cristina Rodilla, Gonzalo Núñez-Moreno, Yolanda Benitez, Marta Rodríguez de Alba, Fiona Blanco-Kelly

Int J Mol Sci· April 2025

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A protein corona modulates the function of mineralization-competent matrix vesicles.
Juçara Gastaldi Cominal, Heitor Gobbi Sebinelli, Larwsk Hayann, Lucas Fabrício Bahia Nogueira, Marcos Antonio Eufrásio Cruz

JBMR Plus· February 2025

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Personalized μ-transcranial alternating current stimulation improves online brain-computer interface control.
Deland Hu Liu, Satyam Kumar, Hussein Alawieh, Frigyes Samuel Racz, Jose Del R Millan

J Neural Eng· January 2025

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De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova, Karolina Kaminska, Suzanne E de Bruijn

medRxiv· January 2025

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Outcomes of a Pilot Newborn Screening Program for Spinal Muscular Atrophy in the Valencian Community.
Alba Berzal-Serrano, Belén García-Bohórquez, Elena Aller, Teresa Jaijo, Inmaculada Pitarch-Castellano

Int J Neonatal Screen· January 2025

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Lipid Oxidation at the Crossroads: Oxidative Stress and Neurodegeneration Explored in .
Julia Tortajada-Pérez, Andrea Del Valle Carranza, Cristina Trujillo-Del Río, Mar Collado-Pérez, José María Millán

Antioxidants (Basel)· January 2025

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