Results 51 to 60 of about 2,723,375 (158)

Multilevel analysis of patients with hypophosphatasemia: genomic, epigenomic and isoenzyme activity profiles

Frontiers in Endocrinology
BackgroundHypophosphatasemia is the biochemical hallmark of (HPP), a rare genetic condition caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP) due to pathogenic variants in the ALPL gene.
Álvaro Del Real, Álvaro Del Real, Álvaro Del Real, Sofía Álvarez Villalobos, María Ortiz Espejo, Carolina Sañudo, Carolina Sañudo, Ana I. Vega, Ana I. Vega, Leyre Riancho-Zarrabeitia, Leyre Riancho-Zarrabeitia, Leyre Riancho-Zarrabeitia, Teresa Amigo, Maria Teresa García-Unzueta, Maria Teresa García-Unzueta, Maria Teresa García-Unzueta, Maria Teresa García-Unzueta, Nuria Puente Ruiz, Nuria Puente Ruiz, Nuria Puente Ruiz, Nuria Puente Ruiz, Alex Garcia Tellado, Olga Gutiérrez Saiz, Olga Gutiérrez Saiz, Javier Lopez Montiel, Juan Ansede-Bermejo, Juan Ansede-Bermejo, Jose Luis Fernández-Luna, Domingo González-Lamuño, Domingo González-Lamuño, Domingo González-Lamuño, Angel Carracedo, Angel Carracedo, Angel Carracedo, Jose A. Riancho, Jose A. Riancho, Jose A. Riancho, Jose A. Riancho   +37 more
doaj   +1 more source

Efficacy, safety and cost‐effectiveness of CAR‐T therapy

British Journal of Clinical Pharmacology, EarlyView.
CAR T‐cells demonstrate high efficacy in blood cancers, including ALL, MM and DLBCL. Innovations target solid tumours despite challenges such as antigen escape. Combination therapies enhance the delivery and infiltration of CAR T cells. Toxicity, cost and resistance remain major barriers to clinical use.
Emina Karahmet Sher, Amina Džidić‐Krivić, Emma Pinjic, Nejra Selak, Kanita Omerbasic, Alexandar Chupin, Andrej Belancic, Almir Fajkic   +7 more
wiley   +1 more source

Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population

, 2010
Mineralization of the extracellular matrix of bone is an essential element of bone development, maintenance and repair. ALPL and ENPP1 genes and their products are known to be central in local regulation of bone mineralization.
Cohen, Z., Altmüller, J., Livshits, G., Ermakov, S., Nürnberg, P., Toliat, M.R., Malkin, I., Ida Malkin, Peter Nürnberg, Mohammad Reza Toliat, Zvi Cohen, Janine Altmüller, Sergey Ermakov, Gregory Livshits   +13 more
core   +1 more source

Caveolin‐1 enriched apoptotic bodies derived from oral hard palate orchestrate bone remodeling to treat heterotopic ossification

BMEMat, EarlyView.
Downregulated CAV1 in HO is restored via apoptotic bodies from PMSCs, which reprogram bone remodeling by delivering CAV1 to target cells, highlighting the therapeutic role of EV subtypes in heterotopic ossification. Abstract Heterotopic ossification (HO) is a pathological process characterized by ectopic bone formation in non‐osseous tissues, with an ...
Yuchen Wang, Like Tang, Zhou Yu, Wenjin Cai, Qifeng Jiang, Zhikang Wang, Yitong Chen, Kaichen Lai, Ying Wang, Tim Forouzanfar, Chiyuan Ma, Gang Wu, Tingben Huang, Guoli Yang   +13 more
wiley   +1 more source

Allele polymorphism of alkaline, acid soluble phosphatase genes and vitamin D-binding protein in postmenopausal osteoporosis

Терапевтический архив, 2004
Aim. To study polymorphism of genes involved in mechanisms regulating metabolism of bone tissue: alkaline (ALPL) and acid (ACPI) phosphatases, vitamin D-bindingprotein (GC); to ascertain associations of their genotypes and alleles with osteoporosis (OP ...
M Yu Krylov, T A Korotkova, V A Myakotkin, L I Benevolenskaya   +3 more
doaj  

The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult‐Onset Hypophosphatasia

JBMR Plus, 2023
Hypophosphatasia (HPP) is an inherited disease caused by variants of the ALPL gene encoding tissue‐nonspecific alkaline phosphatase. Adult‐onset HPP (adult HPP), known as a mild form of HPP, develops symptoms involving osteomalacia after the age of 18 ...
Naoko Hidaka, Hiroaki Murata, Kanako Tachikawa, Keiichi Osaki, Takashi Sekiyama, Yuka Kinoshita, Hajime Kato, Yoshitomo Hoshino, Soichiro Kimura, Takashi Sunouchi, So Watanabe, Masaomi Nangaku, Noriko Makita, Toshimi Michigami, Nobuaki Ito   +14 more
doaj   +1 more source

Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review

Epilepsia Open, EarlyView.
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung, Hsi Chen, Che‐Wei Hsu, Meng‐Han Tsai   +3 more
wiley   +1 more source

ALPL mutations in each clinical type.

, 2019
ALPL mutations in each clinical type.
Atsushi Watanabe (64183), Rena Okawa (7485596), Taichi Kitaoka (312591), Takeshi Taketani (3157890), Kazuhiko Nakano (630560), Toshimi Michigami (312595), Keiichi Ozono (312596), Kazuma Kokomoto (7485599), Takuo Kubota (312592)   +8 more
core   +1 more source

Modulation of Arachidonic Acid Metabolism by Pinoresinol Diglucoside Ameliorates Osteogenic Dysfunction via Coordinated NF‐κB Suppression and GSK3β/β‐Catenin Activation in Diabetic Osteoporosis

Phytotherapy Research, EarlyView.
ABSTRACT Diabetic osteoporosis (DOP) is characterized by chronic low‐grade inflammation and impaired bone formation. Pinoresinol diglucoside (PDG), a bioactive compound derived from Eucommia ulmoides Oliv., has shown therapeutic potential in metabolic bone disorders; however, its direct molecular targets and integrated mechanisms remain unclear.
Wenqi Jin, Yujing Tan, Lei Zhang, Weigeng She, Yunhang Chu, Xuenan Chen, Shuai Zhang, Liwei Sun   +7 more
wiley   +1 more source

Prediction of Immune Infiltration Diagnostic Gene Biomarkers in Kawasaki Disease

Journal of Immunology Research, 2022
Kawasaki disease (KD) is characterized by disorder of immune response with unknown etiology. Immune cells may be closely related to the onset of KD. The focus of this research was to evaluate the significance of the infiltration of immune cells for this ...
Hongjun Ba, Yao Wang, Lili Zhang, Huishen Wang, Zhan-Peng Huang, Youzhen Qin   +5 more
doaj   +1 more source