Results 131 to 140 of about 406,691 (285)

P814: Cases of survivorship: Prenatal counseling for double heterozygosity in skeletal dysplasia

Genetics in Medicine Open
Andrea Schelhaas, Angela Duker, Valerie Schwartz, Ricki Carroll   +3 more
doaj   +1 more source

Soluble Epoxide Hydrolase Inhibition Regulates Septoclast Activity to Promote Long Bone Growth and Fracture Healing by Enhancing Endothelial‐to‐Mesenchymal Notch Signalling

Cell Proliferation, EarlyView.
The sEH inhibitor TPPU upregulates endothelial HIF‐1α, activating the NOTCH signalling pathway between endothelial cells and mesenchymal stem cells. This promotes the differentiation and formation of FABP5+ septoclasts, enhances their participation in endochondral ossification, and ultimately improves longitudinal bone growth and fracture healing ...
Weixian Chen, Liangliang Liu, Xumeng Wang, Juanjuan Li, Jingyi Zhang, Xiaoli Shi, Qing Sun, Xu Chang, Jing Zhang, Jie Zhao, Fu Wang   +10 more
wiley   +1 more source

Chromatin Remodeller BRD9 Orchestrates Odontoblastic Differentiation via Coordinating RUNX2‐KLF4

Cell Proliferation, EarlyView.
During odontoblast lineage commitment, the chromatin remodeller BRD9 acts as a critical epigenetic coordinator, orchestrating the chromatin landscape to facilitate synergistic binding of key transcription factors RUNX2 and KLF4 to target loci for odontogenesis.
Wenrui Zeng, Yuxiu Lin, Yongyan Gao, Delan Huang, Yuanyuan Li, Honglei Ruan, Guohua Yuan, Huan Liu, Zhi Chen   +8 more
wiley   +1 more source

Inborn errors of immunity in children with neuroinflammation

Developmental Medicine &Child Neurology, EarlyView.
Abstract Inborn errors of immunity (IEIs), an expanding group of monogenic disorders with diverse clinical manifestations, are increasingly recognized to include neuroinflammatory disease. Examples of diseases included under this umbrella are Aicardi–Goutières syndrome, deficiency of adenosine deaminase 2, familial haemophagocytic lymphohistiocytosis ...
Eppie M Yiu, Dilan Dissanayake, Jessie Cunningham, Helen Branson, Ori Scott, E Ann Yeh   +5 more
wiley   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source

Long‐term NSAID efficacy in haematological and bone manifestation of Ghosal haematodiaphyseal dysplasia: An expanded cohort

British Journal of Haematology, EarlyView.
Jonathan Bordat, Felipe Suarez, Matthieu Jestin, Guillaume Bonnard, Joy Benadiba, Stephane Vanderbecken, Thierry Molina, Valérie Cormier‐Daire, Regis Peffault de Latour, Marie Passet, Jean Soulier, Mathilde Doyard, Lise Larcher, Veronique Meignin, Flore Sicre de Fontbrune   +14 more
wiley   +1 more source

Comment on "Characterization of individuals with skeletal dysplasia at a referral center in Brazil". [PDF]

J Community Genet
Ali A.
europepmc   +1 more source

A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign

, 2010
We report on a recurrence of a lethal skeletal dysplasia with features similar to Desbuquois dysplasia (DD) to expand the phenotypic spectrum of DD-like conditions, to increase awareness of DD-like phenotypes in the differential diagnosis of prenatal ...
Kiraly-Borri, C., Overkov, A., Baynam, G., Jevon, G.P., Dickinson, J.E., Goldblatt, J.   +5 more
core  

Ηip dysplasia in children with spina bifida after prenatal surgical closure

Developmental Medicine &Child Neurology, EarlyView.
Neonatal hip morphology following prenatal closure remains poorly characterized. This study is the first to compare the prevalence of sonographically detectable hip dysplasia in children who underwent prenatal closure for spina bifida with that of the general infant population.
Domenic Grisch, Aurelia Hof, Charlotte Vlachopoulos, Spina Bifida Study Group Zurich, Barbara Casanova, Ruth Etter, Patrice Grehten, Sandra Fernandez‐Diaz, Cornelia Hagmann, Maya Horst Luethy, Raimund Kottke, Niklaus Krayenbuehl, Markus A. Landolt, Bea Latal Hajnal, Andrea Lehmann, Luca Mazzone, Andreas Meyer‐Heim, Carolin Meyer zu Spradow, Theres Moehrlen, Ueli Moehrlen, Svea Muehlberg, Timothy Müller, Beth Padden, Susanne Polentarutti, Antonin Prouza, Evelyne Riesen, Brigitte Seliner, Mithula Shellvarajah, Selma Sirin, Alexandra Wattinger, Noemi Zweifel, Lukas Kandler, Nicole Ochsenbein, Nele Struebing, Max Antonio Thomasius, Ladina Vonzun, Britta K. Krautwurst, Christos Tsagkaris, Thomas Dreher   +38 more
wiley   +1 more source

Characterization of individuals with skeletal dysplasia at a referral center in Brazil. [PDF]

J Community Genet
Meira JGC, Migliavacca MP, Acosta AX.
europepmc   +1 more source