Results 41 to 50 of about 65,546 (106)

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 849-861, May 2026.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Cleidocranial Dysplasia [PDF]

, 1970
Cleidocranial dysplasia (CCD) is a bone disorder with cranial malformations, dental abnormalities, clavicular hypoplasia or agenesis and narrow thorax which allows approximation ofshoulders in front of chest. We report a case of CCD and discuss&
Chavva, Sunanda, Badam, Rajkumar, Reddy, MR Haranatha, Reddy, Nallamilli VS Sekhar   +3 more
core  

Melatonin Counteracts Mechanical Unloading‐Induced Bone Loss Through YTHDF3‐Mediated m6A Modification of Dapk2 mRNA

Journal of Pineal Research, Volume 78, Issue 3, May 2026.
ABSTRACT Disuse osteoporosis, a consequence of prolonged mechanical unloading, is characterized by bone loss and elevated fracture susceptibility. Although melatonin exhibits bone‑anabolic properties, its mechanistic role in the context of mechanical unloading remains elusive.
Quan Sun, Liqun Xu, Zhikui Li, Junfei Zhang, Xiran Zhao, Lijun Zhang, Xiaoyan Zhang, Jiangdong Zhao, Yingjun Tan, Luyao Wang, Ge Zhang, Zebing Hu, Shu Zhang, Fei Shi   +13 more
wiley   +1 more source

Pycnodysostosis With Papilledema and Isolated Low Parathyroid Hormone Levels in an Eight‐Year‐Old Girl: A Genetically Confirmed Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting from pathogenic variants in the CTSK gene, which encodes cathepsin K, a lysosomal cysteine protease expressed in osteoclasts. Deficiency of this enzyme leads to defective bone resorption and generalized osteosclerosis.
Meghana Krishna Kesineni, Naveen Jagadish Kandregula, Sameer Kumar Majety, Yulia Alekseevna Pimenova, Bhargav Kadali, Vineeth Potluri, Prudhvi Lekkala   +6 more
wiley   +1 more source

Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review

Frontiers in Genetics, 2021
Cleidocranial dysplasia (CCD; OMIM 119600) is a rare autosomal dominant skeletal dysplasia, which is mainly characterized by persistently open or delayed closure of fontanelle, patent skull sutures, abnormal clavicles, pectus excavatum, short stature ...
Ru Xue, Guoqing Zhang, Xiafang Chen, Xiuxia Ye   +3 more
doaj   +1 more source

Correlation of RUNX2 Variants With Craniofacial–Dental Phenotypes in Cleidocranial Dysplasia

Clinical and Experimental Dental Research, Volume 12, Issue 2, April 2026.
ABSTRACT Objectives Cleidocranial dysplasia (CCD) is a rare RUNX2‐related skeletal disorder characterized by craniofacial anomalies and skeletal Class III malocclusion. However, the relationship between RUNX2 variant type and phenotype severity remains unclear. This study aimed to evaluate the association between RUNX2 variant types and the severity of
Pintu‐on Chantarawaratit, Sermporn Thaweesapphithak, Pisha Pittayapat, Thantrira Porntaveetus   +3 more
wiley   +1 more source

Application of Artificial Intelligence in Detecting Dental Anomalies: Current Models, Imaging Modalities, and Future Directions

Health Science Reports, Volume 9, Issue 3, March 2026.
ABSTRACT Background and Aim As dental anomalies can significantly affect esthetic and function, early detection and diagnosis are crucial for treatment and minimizing potential negative effects. Artificial intelligence (AI) has emerged as a promising tool for the segmentation and detection of dental anomalies in number, morphology, size, position, and ...
Mobina Sadat Zarabadi, Zeynab Pirayesh, Shaghayegh Najary, Alireza Jafarzade Ghadimi, Mohammad Behnaz   +4 more
wiley   +1 more source

Cleidocranial dysplasia caused by a novel de novo RUNX2 splice-site variant

Human Genome Variation
Cleidocranial dysplasia is an autosomal dominant disorder caused by RUNX2 variants. We report a Japanese boy with enlarged fontanelles in infancy, initially suspected of hypophosphatasia.
Hitoshi Kashiki, Jun Kido, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura   +7 more
doaj   +1 more source

Runx2 Regulated Airway Homeostasis Is Disrupted in Asthma

The FASEB Journal, Volume 40, Issue 4, 28 February 2026.
Runt‐related transcription factor‐2 (RUNX2) expression and regulation of airway remodeling factors were examined in asthmatic and nonasthmatic airway smooth muscle (ASM) cells. Regulation by transforming growth factor‐β of active RUNX2 isoform translocation to the nucleus was absent in asthmatic ASM, while RUNX2 overexpression suppressed markers of ...
Junfei Wang, Alen Faiz, Qi Ge, Rob van de Velde, Theo Borghuis, Brian G. Oliver, Maarten van den Berge, Victor Guryev, Alan James, John G. Elliot, Andrew J. Halayko, Liang Dong, Anthony W. Ashton, Janette K. Burgess   +13 more
wiley   +1 more source