Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred

Seventeen-year follow-up of hypophosphatasia diagnosed in middle-aged siblings harboring a novel intronic and a rare missense ALPL gene mutation.

Bone·2026

Markedly discordant hypophosphatasia in a young girl.

Bone·2025

Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsion.

Bone·2025

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Bone·2025

Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.

Bone·2024

Pediatric hypophosphatasia: avoid diagnosis missteps!

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research·2024

Correlation between MMP-3-1171 5A/6A polymorphism and the risk of Alzheimer's disease: A meta-analysis.

Medicine·2026

Endoscopic ultrasound-guided left gastric vein embolization for esophageal and gastric varices in liver cirrhosis: A case report.

Medicine·2026

A case report on the co-presentation of pituitary abscess and POEMS-like syndrome.

Medicine·2026

Ferroptosis-related SOCS1 as a candidate host-response biomarker in tuberculosis: An integrated transcriptomic and clinical validation study.

Medicine·2026

Empagliflozin improves serum uric acid and early cardiometabolic outcomes in asymptomatic hyperuricemia among patients with type 2 diabetes: A 6-month observational study.

Medicine·2026

Global trends and hotspots of intra-articular hyaluronic acid therapy for knee osteoarthritis: A bibliometric study.

Medicine·2026

Association between DNA methylation-based aging clocks and periodontitis in aged adults: results from NHANES 1999-2002.

Epigenomics·2026

Surgical Strategies for Native Esophagus Preservation in Long-Gap Esophageal Atresia: A 20-Year Population-Based Study.

Journal of clinical medicine·2026

Dietary Laver Intake and Risk of Incident Abdominal Obesity Among Korean Adults: An 18-Year Prospective Cohort Study.

Nutrients·2026

Exploring the Effect of Whole-Genome Duplication on Salmonid LincRNA Repertoire.

International journal of molecular sciences·2026

Functional Variation in the Feeding Apparatus of Charadriiform Shorebirds With Emphasis on Bill-Tip Organs and Micro Tongue Tip Spines.

Journal of morphology·2026

Cell-cycle-resolved τSTED nanoscopy reveals nanoscale reorganization of TGN46-positive structures.

Cell structure and function·2026

Related Experiment Videos

Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred

Related Concept Videos

Seventeen-year follow-up of hypophosphatasia diagnosed in middle-aged siblings harboring a novel intronic and a rare missense ALPL gene mutation.

Markedly discordant hypophosphatasia in a young girl.

Duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) are associated with tendon avulsion.

Transforming growth factor, beta-2 gene mutation causes autosomal dominant Camurati-Engelmann disease, type 2 (OMIM % 606631).

Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.

Pediatric hypophosphatasia: avoid diagnosis missteps!

Correlation between MMP-3-1171 5A/6A polymorphism and the risk of Alzheimer's disease: A meta-analysis.

Endoscopic ultrasound-guided left gastric vein embolization for esophageal and gastric varices in liver cirrhosis: A case report.

A case report on the co-presentation of pituitary abscess and POEMS-like syndrome.

Ferroptosis-related SOCS1 as a candidate host-response biomarker in tuberculosis: An integrated transcriptomic and clinical validation study.

Empagliflozin improves serum uric acid and early cardiometabolic outcomes in asymptomatic hyperuricemia among patients with type 2 diabetes: A 6-month observational study.

Global trends and hotspots of intra-articular hyaluronic acid therapy for knee osteoarthritis: A bibliometric study.

Association between DNA methylation-based aging clocks and periodontitis in aged adults: results from NHANES 1999-2002.

Surgical Strategies for Native Esophagus Preservation in Long-Gap Esophageal Atresia: A 20-Year Population-Based Study.

Dietary Laver Intake and Risk of Incident Abdominal Obesity Among Korean Adults: An 18-Year Prospective Cohort Study.

Exploring the Effect of Whole-Genome Duplication on Salmonid LincRNA Repertoire.

Functional Variation in the Feeding Apparatus of Charadriiform Shorebirds With Emphasis on Bill-Tip Organs and Micro Tongue Tip Spines.

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Related Experiment Videos

Familial expansile osteolysis (excessive RANK effect) in a 5-generation American kindred

Related Concept Videos

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