Results 91 to 100 of about 26,316 (237)

Expanding the Prenatal Phenotypic Spectrum of TRPV6 Variants With Ocular Anomalies

Prenatal Diagnosis, EarlyView.
Edouard Leyne, Jelena Martinovic, Peter Kamenický, Agnès Linglart, Julien Saada, Alexandra Benachi, Alexandre J. Vivanti, Jérôme Bouligand   +7 more
wiley   +1 more source

Fossil bears break free from inhibitory cascade constraints at least twice (Ursus minimus and Ursus deningeri) caused by dietary adaptations

Boreas, EarlyView.
Bears deviate from the inhibitory cascade model (ICM) during molar size evolution, with two significant deviations linked to changes in diet: Ursus minimus and Ursus deningeri. Many bears exhibit a ‘partial ICM’, highlighting the relationship between relative molar size, dietary adaptations and dental development across different species.
Anneke H. van Heteren, A. Stefanie Luft
wiley   +1 more source

Smile Stories: Investigating Pediatric Dental Anomalies a Cross-Sectional Study

Journal of Islamic International Medical College
Objective: Determination of the frequency and distribution of dental anomalies across different age groups and gender within the pediatric population. Study Design: Cross-sectional observational study.
Mehwash Kashif , Irum Munir Raja , Uzma Zareef , Amna Rehman , Sana Adeeba Islam , Nabeel Khan
doaj   +1 more source

Early‐Onset Digestive System Cancers: Risk Factors and Clinicopathological and Molecular Features Across Organ Sites

Cancer Science, EarlyView.
Shared risk factors, clinical features, and tumor characteristics across multiple early‐onset cancer types are shown in this Graphical Abstract. Integrative approaches combining molecular pathology, oncology, and population sciences offer opportunities to clarify underlying mechanisms and help us develop preventive strategies for early‐onset cancers ...
Nobuhiro Nakazawa, Satoko Ugai, Atsushi Kondo, Kosuke Matsuda, Shu Kato, Genki Usui, Shiori Tanaka, Hwa‐Young Lee, Xinyuan Zhang, Hideo Miyagawa, Mai Chan Lau, Hiroshi Saeki, Yukihide Kanemitsu, Andrew T. Chan, Shuji Ogino, Minkyo Song, Juha P. Väyrynen, Tomotaka Ugai   +17 more
wiley   +1 more source

Oral Health Care Services, Barriers and Enablers to Maintaining Good Oral Health in Motor Neurone Disease: A Scoping Review

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives The objective of this scoping review was to map existing literature on oral health and related care in individuals with Motor Neurone Disease (MND). Specifically, the review aimed to identify barriers and facilitators to maintaining oral hygiene, summarise available clinical guidelines and patient‐facing resources, and examine how ...
Mariam A. Khokhar, Lucy A. O'Malley, Anne‐Marie Glenny, Xiaohui Chen   +3 more
wiley   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

Clinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson, Zhuo Shao, Anupreet Tumber, Erika Tavares, Kashif Ahmed, Edward J. Higginbotham, Christian R. Marshall, Jason T. Maynes, Ammaji Rajala, Raju V. S. Rajala, Elise Héon, Ajoy Vincent   +11 more
wiley   +1 more source

Craniofacial Dysmorphology Associated With Phelan–McDermid Syndrome Using Three‐Dimensional Morphometrics

Clinical Genetics, EarlyView.
Using 3D morphometrics quantifies genetic contribution to head and face development. ABSTRACT Phelan–McDermid syndrome (PMS) frequently presents with distinctive facial features, although a typical facial phenotype for this condition has not been well characterized.
Katherine Weisensee, Sara M. Sarasua, Lior Rennert, Curtis Rogers, Katy Phelan, Kara Powder, Luigi Boccuto   +6 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

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Roles of ER Membrane Protein Complex in Protein Biogenesis and Quality Control in the Lung and Beyond

Cell Proliferation, EarlyView.
The endoplasmic reticulum membrane protein complex (EMC) is an evolutionarily conserved, multi‐subunit transmembrane protein complex crucial to membrane protein biogenesis and cellular protein quality control. This review systematically examines the structure, functions and disease‐associated regulatory mechanisms of EMC across multiple organ systems ...
Yan Qiao, Yuqing Sun, Yutao Huang, Qinghang Meng, Xinhua Lin, Wei Wei, Xiaofang Tang   +6 more
wiley   +1 more source