Results 121 to 130 of about 385,840 (284)

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum

Clinical Genetics, EarlyView.
Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz, Simone Carbonera, Mónica Mora‐Gómez, Natalia Gallego‐Zazo, Inmaculada Guillén, Elena Padilla, Gaia Visani, Alessia Asaro, Valeria Vásquez‐Amell, Mario Cazalla, Manuel Rodríguez‐Canó, Cristina Silván, Pedro Arias, Juan Andrés Jiménez‐Estrada, Tomás Valle, Alejandro Cruz‐Utrilla, Pilar Escribano‐Subías, Nuria Ochoa Parra, María Jesús del Cerro Marín, Julián Nevado, Spanish PAH Consortium, Pablo Lapunzina, Fabio Sirchia, Jair Tenorio‐Castano   +23 more
wiley   +1 more source

A Novel 4.2 kb deletion of the 3′UTR of RUNX2 Gene Causes Cleidocranial Dysplasia: Further Delineation of the Role of yhe 3′UTR

Balkan Journal of Medical Genetics
Cleidocranial dysplasia is a rare autosomal dominant skeletal dysplasia. We present the first case in the literature involving a deletion of the 3′UTR of RUNX2 gene associated with a cleidocranial dysplasia spectrum disorder, along with the diagnostic ...
Mijovic M, Cuturilo G, Ruml Stojanovic J, Brankovic M, Miletic A, Bosankic B, Dedovic M, Perovic D, Maksimovic N, Damnjanovic T   +9 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

Displasia fibrosa dos ossos da face e do crânio: revisão da literatura e relato de três novos casos. [PDF]

, 1999
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Cirúrgica, Curso de Medicina, Florianópolis ...
Casagrande, Maika Adriana Dione
core  

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

Cleidocranial dysplasia

Lung India, 2010
Cleidocranial dysplasia is a rare autosomal dominant condition with generalized dysplasia of bone, characterized by delayed closer of cranial sutures, hypoplastic or aplastic clavicles, short stature, dental abnormalities and a variety of other skeletal ...
Dixit Ramakant, Dixit Kalpana, Paramez A
doaj  

A novel deep intronic EIF2AK3 variant disrupts splicing and causes Wolcott–Rallison syndrome

Diabetic Medicine, EarlyView.
Abstract Aim Deep intronic variants can disrupt splicing and cause monogenic disease but are missed by routine genetic testing. This study assessed the contribution of deep intronic variants to Wolcott–Rallison syndrome (WRS), a recessive disorder characterized by early‐onset diabetes and progressive multisystem disease caused by loss‐of‐function ...
Alaa Al Assi, Georgia Bonfield, James Russ‐Silsby, Suhel Ahmed, Thomas W. Laver, Kadri Karaer, Bayram Özhan, Ayca Altincik, Kashyap A. Patel, Jayne A. L. Houghton, Sarah E. Flanagan, Matthew B. Johnson, Elisa De Franco   +12 more
wiley   +1 more source