Results 151 to 160 of about 34,364 (292)

Characterization of the craniofacial abnormalities of the homozygous G608G progeria mouse model. [PDF]

Front Physiol
Beeram I, Cubria MB, Kamalapathy P, Yeritsyan D, Dubose AJ, Razavi AH, Nafisi N, Erdos MR, Snyder BD, Cabral WA, Collins FS, Nazarian A.   +11 more
europepmc   +1 more source

Drug‐Induced Sleep Endoscopy in Children Predicts OSA Severity

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Background While adenotonsillectomy (AT) is first line for pediatric obstructive sleep apnea (OSA), treatment failure is common. Drug‐induced sleep endoscopy (DISE) provides dynamic airway assessment, but its role in predicting OSA severity requires clarification. This study correlates DISE findings with polysomnographic severity. Objective To
Neemias Santos Carneiro, Antônio Carlos Marão, Renato Battistel Santana, Camila de Castro Corrêa, Silke Anna Theresa Weber   +4 more
wiley   +1 more source

Caracterización de alteraciones craneofaciales en población con necesidades especiales: autismo y retardo mental. Revisión sistemática de la literatura / Craniofacial Abnormalities in Special-Needs Population. Systematic Review of Literature

, 2014
Antecedentes: en los pacientes con discapacidad física y mental se han encontrado anomalías orales y dentales que pueden llevar a un mal funcionamiento del complejo estomatognático.
Carrillo Estrada, Gloria Ángela, Erazo Cerón, Carol Renata, Velosa Porras, Juliana   +2 more
core  

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders. [PDF]

Ital J Pediatr
Wu D, Chen R, Zhang J, Yan W, Chen M, Xia D, Li X, Dai Y, Chen Y, Li R.   +9 more
europepmc   +1 more source

Hox Gene Variation Drives Morphological Specialization of Humpback Grouper Cromileptes altivelis

Integrative Zoology, EarlyView.
Cromileptes altivelis exhibits a distinctive “sunken head and humpback” morphology, formed through cranial remodeling. Genetic analyses identified unique amino acid variants in Hoxa7a and Hoxa10b, with functional tests confirming their role in enhancing osteoblast activity and driving cranial remodeling.
Xiaoying Cao, Zhaowei Zhong, Lisheng Wu, Quanyin Liu, Shaoxiong Ding   +4 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Phenotypic Expansion and Molecular Implications in Recessive FUZ‐Related Ciliopathy

Clinical Genetics, EarlyView.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source

Investigating the Role of Transforming Growth Factor Beta Superfamily Signaling in Craniofacial Development and Disease

Craniofacial abnormalities are some of the most prevalent congenital abnormalities and can lead to a dramatic reduction in quality of life through severe impairment of the breathing, eating, and communicating of affected individuals.
Fox, Sabrina C.
core   +1 more source

Novel Postzygotic Variants Associated With Hypomelanosis of Ito Expand the ACTB‐Related Neurocutaneous Disease Spectrum

Clinical Genetics, EarlyView.
We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon, Paul Rollier, Didier Bessis, Laurent Pasquier, Caroline Racine, Alexis Praga, Pierre Vabres, Bertille Bonniaud, Paul Kuentz, Laurence Faivre   +9 more
wiley   +1 more source

Single‐Cell Virtual Perturbation Screening Identifies STAT3 as a Key Regulator of Dentinogenesis

Cell Proliferation, EarlyView.
STAT3 promotes odontoblast differentiation in dental mesenchymal cells by transcriptionally regulating WNT2B via the canonical Wnt/β‐catenin signalling pathway. These findings elucidate a mechanism underlying dentine development. ABSTRACT Dentine formation constitutes a physiological process precisely regulated by signal transduction modules governing ...
Yanfei Zhu, Hongyuan Xu, Zijian Zhang, Siyuan Sun, Zihan Huang, Xin Gao, Houwen Pan, Xiangru Huang, Yuanqi Liu, Xinyu Wang, Hanbin Jia, Qinggang Dai, Lingyong Jiang   +12 more
wiley   +1 more source