Results 131 to 140 of about 47,585 (287)

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source

Pathophysiology of chronic kidney disease-mineral bone disorder (CKD-MBD):from adaptive to maladaptive mineral homeostasis [PDF]

Chronic kidney disease-mineral bone disorder (CKD-MBD) is a multifaceted condition commonly seen in people with reduced kidney function. It involves a range of interconnected issues in mineral metabolism, bone health and cardiovascular calcification ...
Merkel, Nathalie, Salera, Davide, de Borst, Martin H; id_orcid, Bellasi, Antonio   +3 more
core   +1 more source

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

Bone mineral loss damages renal tubules in mice

Communications Biology
Fibroblast growth factor-23 (FGF23) is a bone-derived hormone that promotes urinary phosphate excretion in response to phosphate loading. While essential for phosphate homeostasis, elevated FGF23 increases phosphate concentration in the renal tubular ...
Hirosaka Hayashi, Yutaka Miura, Yoshitaka Iwazu, Hideyuki Mukai, Yoshiyuki Mori, Takahiro Kuchimaru, Nobuhiko Ohno, Tatsuya Aiba, Risa Okada, Daisuke Kamimura, Dai Shiba, Hiroshi Kurosu, Makoto Kuro-o   +12 more
doaj   +1 more source

Methacrylated Gelatin and Graphene Oxide Hybrid Hydrogels Composed‐Bioinks for 3D Tissue Engineering

Advanced NanoBiomed Research, EarlyView.
Bioinks made from hydrogels, such as methacrylated gelatin (GelMA), serve as the base material for bioprinted tissues, offering versatility and biocompatibility for a range of applications. Additional components however are still needed to improve functionality and mechanical stability of hydrogels. One of these components is graphene oxide (GO), added
Wanessa S. Mota, Erika S. Lisboa, Victoria L. S. dos Santos, Carine Serafim, Maria L. F. Bezerra, Thais F. R. Alves, Marco V. Chaud, Frederico S. Martins, Juliana C. Cardoso, Eliana B. Souto, Patrícia Severino   +10 more
wiley   +1 more source

Serum TRACP-5b as a Marker for Bone Turnover in Chronic Kidney Disease: Correlation with Mineral-Bone Disorder Markers

JK Science
Background: Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD) leads to progressive alterations in bone turnover and mineral metabolism. Tartrate-resistant acid phosphatase 5b (TRACP-5b) is a promising biomarker for bone resorption, potentially ...
Lohitha Polisetty, B R Neeharika, Smriti Sinha   +2 more
doaj  

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

33. PENATALAKSANAAN CHRONIC KIDNEY DISEASE-MINERAL AND BONE DISORDER (CKD-MBD)

, 2015
33.
HAERANI RASYID, HAERANI RASYID
core  

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +1 more source

Biomechanical strain patterns in Meckel's cartilage underlie mandibular variation in FGFR2 mouse models

The Anatomical Record, EarlyView.
Abstract Sequence variations in fibroblast growth factor receptor 2 (FGFR2) are associated with craniosynostosis syndromes, disrupting craniofacial development, yet early mandibular alterations remain poorly characterized. This study examined Meckel's cartilage (MC) and mandibular morphology in mouse models of Apert (Fgfr2+/P253R) and Crouzon ...
Fred R. Foster, Alexandre Freire, Ana Cláudia Rossi, Jordan Wilson, Joan T. Richtsmeier, Kazuhiko Kawasaki, Felippe B. Prado, Susan M. Motch Perrine   +7 more
wiley   +1 more source