Results 111 to 120 of about 1,975 (168)

Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev, Paula Fernandez Alvarez, Marika Frank, Lucy Hanington, Trevor L. Hoffman, Mira B. Irons, Jenny Kim, Akash Kumar, Amaia Lasa‐Aranzasti, Diana Le Duc, Helen Livesey, Oliver Murch, Deborah Shears, Brandon K. Walther, Tamar Harel   +14 more
wiley   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Dental microwear in laboratory primates: Insights into the complexity of dental microwear formation [PDF]

, 2019
Mark F. Teaford, Myra F. Laird, Callum F. Ross, Andrea B. Taylor, Peter S. Ungar, Christopher J. Vinyard   +5 more
openalex  

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

Establishment of rat model for aspiration pneumonia and potential mechanisms

Animal Models and Experimental Medicine, EarlyView.
Aspiration pneumonia was induced in Sprague Dawley rats by intratracheal instillation of hydrochloric acid (HCl, 1.5 μL/g.wt, pH = 1) followed by lipopolysaccharide (LPS, 20 μg/g.wt) after 1 h. The model reproduced hallmark features of acute lung injury, including histological lung damage, microvascular dysfunction, inflammation, hypoxemia, and ...
Hanbing Hu, Junfeng Chen, Yiru Shao, Yuedong Tang, Yu Dun, Obulkasim Memet, Xuanrong Bao, Jie Shen   +7 more
wiley   +1 more source

An optimized perfusate for enhanced rat ex vivo lung perfusion and lung transplant models

Animal Models and Experimental Medicine, EarlyView.
We explored a low‐cost and efficient perfusate composition for use in rat ex vivo lung perfusion (EVLP) and lung transplant models. This perfusate demonstrates better biocompatibility, likely due to a reduction in immune responses associated with high doses of xenogenic proteins, resulting in less lung injury posttransplantation.
Jie Zhang, Xuanlin Zhang, Jianxing He
wiley   +1 more source

Dual‐energy X‐ray absorptiometry for detecting neurogenic pulmonary edema in a mouse model of subarachnoid hemorrhage

Animal Models and Experimental Medicine, EarlyView.
Using a murine model of SAH, brain magnetic resonance imaging (MRI) was performed to confirm subarachnoid clot formation in the T2*‐weighted images sequence (left). Chest micro‐CT and DXA were performed to measure, respectively, the Hounsfield units (HU) and lean mass (LM) (middle) in order to test their relationship and ability to detect post‐SAH NPE (
Tatsushi Mutoh, Hiroaki Aono, Yushi Mutoh, Tatsuya Ishikawa   +3 more
wiley   +1 more source

Animal models of lung cancer: Phenotypic comparison of different animal models of lung cancer and their application in the study of mechanisms

Animal Models and Experimental Medicine, EarlyView.
Grafts used to construct lung cancer animal models come from various sources, primarily cell lines, patient‐derived tumor tissues, and circulating tumor cells. Based on the sources of grafts and research objectives, lung cancer animal models can be categorized into several types: chemical‐induced models, orthotopic transplantation models, heterotopic ...
Zixuan Yang, Xianbin Zhao, Lili Tan, Pingxinyi Que, Tong Zhao, Wei Huang, Dejiao Yao, Songqi Tang   +7 more
wiley   +1 more source