Results 181 to 190 of about 1,815,286 (361)

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

Clinical Genetics, EarlyView.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis, Afrodite Kampouraki, Danai Veltra, Faidon‐Nikolaos Tilemis, Maria Vasilopoulou, Aikaterini Dokou, Elissavet Georgiadou, Euthalia Karavergou, Maria Christolouka, Alexis Alexopoulos, Dimitra Kirillidi, Maria Goudesidou, Konstantina Kosma, Christalena Sofocleous, Periklis Makrythanasis   +14 more
wiley   +1 more source

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies

Clinical Genetics, EarlyView.
Missense variants in TMEM17 disrupt its localization and function at the ciliary transition zone, leading to a wide range of ciliopathy phenotypes, from OFD6 and Joubert syndromes to Meckel syndrome. ABSTRACT Ciliopathies are rare genetic disorders characterized by significant genetic and phenotypic variability.
Lucile Boutaud, Chunmei Li, Candice Moncler, Laure Verlin, Meriem Garfa‐Traoré, Nicolas Bourgon, Dhruvin Akbari, Jeanne Porée, Valentina Serpieri, Marine Panza, Lynda Haddad, Patrick Nitschké, Jacqueline Aziza, Cristina Matt, Enza Maria Valente, Patricia Gargallo, Charlotte Dubucs, Tania Attié‐Bitach, Michel R. Leroux, Sophie Thomas   +19 more
wiley   +1 more source

Peri‐Implant Conditions During Supportive Periodontal Care: A Prospective Study

Clinical Oral Implants Research, EarlyView.
ABSTRACT Aim To assess peri‐implant conditions in a cohort of patients previously treated for periodontitis undergoing supportive periodontal care (SPC). Materials and Methods A prospective observational study was carried out on previously treated periodontitis patients followed for 5 years in SPC.
Margherita Sforza, Pasquale Santamaria, Aliye Akcalı, Luigi Nibali   +3 more
wiley   +1 more source

FAM20A Deficiency Drives Transcriptomic Dysregulation and Functional Impairment in Gingival Fibroblasts

Cell Proliferation, EarlyView.
FAM20A variants cause AI1G, marked by enamel defects, gingival overgrowth and ectopic calcifications. RNA sequencing of patient‐derived gingival fibroblasts showed dysregulated genes in adhesion, proliferation and signalling pathways. Functional assays revealed increased cell proliferation, impaired ECM interactions and osteogenesis, suggesting FAM20A ...
Kanokwan Sriwattanapong, Sermporn Thaweesapphithak, Chompak Khamwachirapitak, Pannagorn Sae‐ear, Sasiprapa Prommanee, Noppadol Sa‐Ard‐Iam, Suphalak Phothichailert, Han Sung Jung, Vorasuk Shotelersuk, Thantrira Porntaveetus   +9 more
wiley   +1 more source

Dental pathology in chinchillas [PDF]

, 2010
Derbaudrenghien, Virginie, Gielen, Ingrid, Hermans, Katleen, Martel, An, Van Caelenberg, Annemie   +4 more
core  

Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis

Cell Proliferation, EarlyView.
Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang, Miao Yu, Hangbo Liu, Kai Sun, Chenxin Geng, Haochen Liu, Hailan Feng, Yang Liu, Hu Zhao, Dong Han   +9 more
wiley   +1 more source

Resin Wing Technique With Sandblasting Interface Modification: A 24-Month Stable Pulp Preservation in Young Permanent Teeth With Complex Crown Fractures. [PDF]

Case Rep Dent
Zhang J.
europepmc   +1 more source

Idiopathic osteosclerosis in the mandible associated with abnormal tooth root formation

, 2010
Shohei Oshima, Junichi Suzuki, Yasutaka Yawaka   +2 more
openalex   +2 more sources

MCV/Q, Medical College of Virginia Quarterly, Vol. 14 No. 4 [PDF]

, 1978

core   +1 more source

Piezo2 in Mechanosensory Biology: From Physiological Homeostasis to Disease‐Promoting Mechanisms

Cell Proliferation, EarlyView.
Piezo2 channels are essential mechanotransducers regulating touch, proprioception and visceral mechanosensation across physiological systems, emerging as therapeutic targets for pathological mechanical hypersensitivity and neurogenic disorders. ABSTRACT Piezo2, a mechanically activated ion channel, serves as the key molecular transducer for touch ...
Zhebin Cheng, Zuping Wu, Mengjie Wu, Liang Xie, Qianming Chen   +4 more
wiley   +1 more source