Results 191 to 200 of about 98,874 (311)

The inverse relationship between fatness and bone mineral content is mediated by the adolescent appendicular skeletal muscle mass index: The Cogni-Action Project. [PDF]

Front Nutr, 2022
Cristi-Montero C, Peña-Jorquera H, Landaeta-Díaz L, Mello JB, Araya-Quintanilla F, Brand C, Reuter C, Jorquera C, Ferrari G.   +8 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Bone mineral content, not bone mineral density, is the correct bone measure for growth studies [PDF]

The American Journal of Clinical Nutrition, 2003
openaire   +2 more sources

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Side-to-Side Differences in Bone Mineral Density, Bone Mineral Content, and Lean Mass in Healthy Subjects. [PDF]

J Bone Metab
Brance ML, Gregorio SD, Ramírez Stieben LA, Barquero LMDR, Brun LR.   +4 more
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Impact of Ghrelin-Depleting Gastrectomy on Long-Term Endocrine and Metabolic Health With a Focus on Skeletal Muscle and Bone Mineral Content. [PDF]

Ann Gastroenterol Surg
Harada H, Goto T, Yamashita K, Minoura H, Okuno K, Fujita S, Sakuraya M, Higuchi T, Kumagai K, Hiki N.   +9 more
europepmc   +1 more source

Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders

Animal Models and Experimental Medicine, EarlyView.
We applied Mendelian randomization to explore causal links between blood cell traits and skeletal disorders. Using genetic instruments from large‐scale summary statistics, we assessed effects on bone continuity, density, and structural integrity. Sensitivity and reverse analyses confirmed robust associations, highlighting potential shared biological ...
Zhiqin Deng, Zhe Zhao, Wenting Jiang, Xiaoqiang Chen, Jianquan Liu, Xu Tao, Zhengyang Lin, Zhenhan Deng, Wencui Li   +8 more
wiley   +1 more source

Bone mineral content determined by energy X-ray absorptiometry correlates with handgrip strength in Latin American divers. [PDF]

Front Public Health
Véliz A, Pereira R, Dörner A, Álvarez C.   +3 more
europepmc   +1 more source

Reference values for bone density and bone mineral content from 5 to 80 years old in a province of Chile. [PDF]

PeerJ, 2022
Cossio-Bolanos M, Vidal-Espinoza R, Fuentes-Lopez J, Castelli Correia de Campos LF, Andruske CL, Urra-Albornoz C, Alvear Vasquez F, Gomez-Campos R.   +7 more
europepmc   +1 more source