Results 51 to 60 of about 390,574 (294)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy, Pascal Joset, H. E. Veenstra‐Knol, Nicole Corsten‐Janssen, Tuula Rinne, Irene Valenzuela, Marta Codina‐Solà, Carlota Rodó, Marjolaine Willems, Constance Wells, Renaud Touraine, Maayke de Koning, Gijs Santen, Iris Hollink, André Travessa, Alessandro Mauro Spinelli, Paolo Peruzzo, Moneef Shoukier, Roland Axt‐Fliedner, Thomas Menter, Gwendolin Manegold‐Brauer, Isabel Filges   +21 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Anesthetic Management of Children with KBG Syndrome and Novel Use of Sacral Erector Spinae Block: A Case Report

Medical Journal of Dr. D.Y. Patil Vidyapeeth
KBG syndrome is a rare genetic disorder manifested by craniofacial dysmorphism, skeletal abnormalities, short stature, and developmental delay. The anesthetic management may be challenging due to associated craniofacial and other skeletal abnormalities ...
Sana Y. Hussain, Nishant Patel, Anju Gupta, Nupur Pandya   +3 more
doaj   +1 more source

Expanded characterization of the valproic acid zebrafish larval model of autism spectrum disorder: Insights into dysregulation in the gut

Animal Models and Experimental Medicine, EarlyView.
Meticulous calculation of zebrafish‐equivalent therapeutic valproic acid (VPA) dosage maximized the translational value of the data. Hyposerotonergic tone underpinned an anxiety‐like outcome as a core symptom of autism spectrum disorder (ASD). Compartment‐specific dopaminergic and serotonergic dysregulation in the brain versus gut provided mechanistic ...
Lesha Pretorius, Johanna Adriana Coetzee, Alexio Pedro dos Santos, Carine Smith   +3 more
wiley   +1 more source

Neurophysiological assessment of craniofacial pain [PDF]

, 2006
This review deals with the diagnostic usefulness of neurophysiological testing in patients with craniofacial pain. Neurophysiological testing of trigeminal nerve function relies on trigeminal reflexes and laser-evoked potentials (LEPs).
CRUCCU, Giorgio, A. Truini, F. Galeotti, G. Cruccu, TRUINI, ANDREA   +4 more
core   +1 more source

Postnatal Craniofacial Skeletal Development of Female C57BL/6NCrl Mice

Frontiers in Physiology, 2017
The craniofacial skeleton is a complex and unique structure. The perturbation of its development can lead to craniofacial dysmorphology and associated morbidities.
Xiaoxi Wei, Xiaoxi Wei, Neil Thomas, Nan E. Hatch, Min Hu, Fei Liu   +5 more
doaj   +1 more source

Biomimetic Nanomedicine for Aging‐Impaired Bone Regeneration: From Microenvironmental Dysfunction to Precision Therapeutics

Advanced NanoBiomed Research, EarlyView.
Aging disrupts the cellular, immune, vascular, and neural processes required for bone regeneration. This review connects these pathological barriers with biomimetic nanomedicine design, highlighting strategies for cellular rejuvenation, immune modulation, vascular regeneration, and neuro–bone coupling.
Zeyu Wang, He Zhang, Simo Liu, Rui Wang, Yiran Wei, Kailu Zheng, Yanming Guo, Min Li, Dian Yuan, Yuxin Liu, Lifang Feng, Yongping Ma, Yan Liu   +12 more
wiley   +1 more source

Fibroblast growth factor 8: Multifaceted role in development and developmental disorder

Genes and Diseases
Fibroblast growth factor 8 (FGF8), a secreted signaling molecule, involves in regulating cell survival, proliferation, migration, and differentiation. It exhibits a highly dynamic gene expression pattern throughout embryonic development, participates in ...
Huamin Yin, Lian Duan, Zhendong Wang, Li Liu, Jingling Shen   +4 more
doaj   +1 more source

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

Management of Sleep-Disordered Breathing in Children With Craniofacial Abnormalities and Skeletal Dysplasia

Introduction: Anatomic malformations associated with craniofacial abnormalities (CFAs) and skeletal dysplasias (SDs) contribute to airway obstruction during sleep in children, which may be treated surgically, with positive airway pressure (PAP) therapy,
Chawla, JK, Kortge, XT, Collaro, AJ, Phua, Y, Idris, G, Slee, N   +5 more
core   +1 more source