Results 141 to 150 of about 32,206 (257)

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

Schinzel-Giedion Syndrome in One of Dizygotic Twins: Confirmation of a De Novo SET Binding Protein 1 (SETBP1) Variant and Classic Multisystem Phenotype. [PDF]

Cureus
Thanugundla SR, Kothakapa SL, Ramireddy S, Chittireddy S, Krishna PV.   +4 more
europepmc   +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

Application of Mobile 3D C-Arm Technology for Diagnostic Imaging of Cleft Palate in an Adult Rhesus Macaque (Macaca mulatta). [PDF]

J Med Primatol
Wegman M, van der Bie J, Maaskant A, Langermans JAM, Casas SS, Stammes MA, Bakker J.   +6 more
europepmc   +1 more source

Temporomandibular joint disorder and gross motor function in children with cerebral palsy

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To determine the prevalence of the clinical signs and symptoms of temporomandibular joint (TMJ) disorder (TMD) in children with cerebral palsy (CP) and to examine their associations with severity of gross motor impairment, CP subtype, and caregiver‐reported bruxism. Method This cross‐sectional study included 517 children with CP (mean age =
Özge Baykan Çopuroğlu, Baki Umut Tuğay, Muhammet Furkan Vatan   +2 more
wiley   +1 more source

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source

Neuroimmune alterations and nociceptive behavior in oral carcinogenesis in rats

European Journal of Oral Sciences, EarlyView.
Abstract Oral cancer pain is a frequent and debilitating symptom associated with tumor progression. Although neuronal mechanisms have been extensively studied, the role of immune and glial cells in the trigeminal nociceptive pathway remains poorly understood.
Joana Maria dos Santos Alves, Luiza Clertiani Vieira Alves, Vitória Tavares Bessa, Anamaria Falcão Pereira, Roberto César Pereira Lima Júnior, Mariana Lima Vale, Karuza Maria Alves Pereira, Delane Viana Gondim   +7 more
wiley   +1 more source

JAK-STAT signaling: molecular mechanism and targeted treatment in dento-maxillofacial abnormalities. [PDF]

Int J Oral Sci
Huang Z, Cui Y, Zhang W, Shen J, Dai Q, Sun S, Jiang L.   +6 more
europepmc   +1 more source

The R203W substitution drives PACS‐1 syndrome by disrupting intramolecular regulation

The FEBS Journal, EarlyView.
The middle region (MR) of PACS‐1 controls engagement with specific partner proteins. This manuscript presents the structure of the Furin binding region (FBR) and how interactions with partners are regulated through the interplay between a basic patch in the FBR and an acidic cluster in the MR.
Troy C. Krzysiak, In‐Ja L. Byeon, Ryan Ponticelli, Mary E. Lucas, Lariah Thompson, Christopher DeHaven, Gary Thomas, Angela M. Gronenborn   +7 more
wiley   +1 more source

Understanding the Role of Genetic Testing in Diagnosing a Complex Pediatric Case. [PDF]

Clin Case Rep
Verdi G, Foksinska A, Nichols EL, Schmit EO, Watson A, Eckenrode M, Robin NH.   +6 more
europepmc   +1 more source