Results 161 to 170 of about 53,280 (283)

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

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Prenatally Diagnosed Beare‐Stevenson Cutis Gyrata Syndrome With a Novel FGFR2 Variant

Prenatal Diagnosis, EarlyView.
Haley M. Crane, Rose Giardine, Alanna Strong, K. Taylor Wild, Elaine Zackai, Lorraine Dugoff, Teresa N. Sparks, Beverly Coleman, Julie S. Moldenhauer   +8 more
wiley   +1 more source

Zebrafish as a model for Catel–Manzke syndrome—identification and characterization of the zebrafish TGDS ortholog

The FEBS Journal, EarlyView.
Zebrafish Tgds, when expressed as a recombinant protein, catalyzes the dehydration of UDP‐D‐glucose, the initial step in the formation of 6‐deoxyhexoses. Corresponding Tgds mutations found in Catel–Manzke syndrome patients lead to reduced enzymatic activity and stability.
Maria Rosaria Coppola, Deianira Bellitto, Erfan Asgari, Virginia Bazzurro, Giorgia Casucci, Francesco Piacente, Matteo Bozzo, Davide Ceresa, Costantino Parisi, Cecilia Winata, Simona Candiani, Michela Tonetti   +11 more
wiley   +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

Prevalence of Craniofacial Anomalies - 14 Years of Experience in a Brazilian Referral Service

Pesquisa Brasileira em Odontopediatria e Clínica Integrada
Objective: To delineate the frequency of congenital craniofacial anomalies (CCAs) in a Brazilian reference center. Material and Methods: A cross-sectional, retrospective epidemiological study was conducted, updating information from the reference center.
Kélisson Duarte Reis, Cintia Eliza Marques, Fabrício Emanuel Soares de Oliveira, Samuel Trezena, Daniella Reis Barbosa Martelli, Danyele Cambraia Franco de Souza, Hercílio Martelli Júnior   +6 more
doaj  

3D‐Analysis of Correlations Between Facial Measurements and Maxillary Anterior Tooth Dimensions Using Integrated Facial and Intraoral Datasets

Journal of Esthetic and Restorative Dentistry, EarlyView.
ABSTRACT Objective This study aimed to evaluate associations between facial measurements and maxillary anterior tooth dimensions using integrated three‐dimensional (3D) facial and intraoral datasets. Materials and Methods Eighty‐one participants underwent facial and intraoral 3D scanning.
Kathrin Seidel, Philipp Hericks, Basel El‐Sabbagh, Denise Schlee, Pauline Gutmann, Jan‐Frederik Güth   +5 more
wiley   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Mapping the murine TMJ glenoid fossa over development, homeostasis and in response to disease

Journal of Anatomy, EarlyView.
The fibrocartilage of the murine glenoid fossa and condyle of the temporomandibular joint are shown to form at distinct times with distinct molecular identities. Changes in the condyle during disease lead to remodelling of the fossa to maintain joint alignment.
Ticha Tuwatnawanit, Denisa Belisova, Zuzana Sumbalova Koledova, Neal Anthwal, Abigail S. Tucker   +4 more
wiley   +1 more source