Results 21 to 30 of about 4,289 (165)

Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz Syndrome

Clinical Genetics, Volume 107, Issue 6, Page 705-707, June 2025.
We characterized a novel ROGDI variant (NM_024589.3:c.646‐2A>G) identified in a family case of Kohlschütter‐Tönz Syndrome. This variant disrupts a canonical acceptor splice site, in intron 8. By combining RT‐PCR and targeted long‐read cDNA sequencing.
Miriam Essid, Sana Karoui, Mouna Zribi, Thouraya Ben Younes, Louis Januel, Estelle Lafont, Audrey Labalme, Meriem Ben Hafsa, Go Hun Seo, Safa Khatrouch, Hela Boudabous, Amel Ben Chehida, Damien Sanlaville, Houweyda Jilani, Lamia Benjemaa, Ichraf Kraoua, Gaetan Lesca, Nicolas Chatron   +17 more
wiley   +1 more source

Circadian rhythms regulate amelogenesis [PDF]

Bone, 2013
Ameloblasts, the cells responsible for making enamel, modify their morphological features in response to specialized functions necessary for synchronized ameloblast differentiation and enamel formation. Secretory and maturation ameloblasts are characterized by the expression of stage-specific genes which follows strictly controlled repetitive patterns.
Hidemitsu Harada, Silvana Papagerakis, Márcio Mourão, Petros Papagerakis, Yoon Ji Seon, Santiago Schnell, Li Zheng, Doohak Kim   +7 more
openaire   +3 more sources

Human tissue oxygen and strontium isotope values in North America: A data compilation and assessment for forensic geolocation

Journal of Forensic Sciences, Volume 70, Issue 3, Page 905-920, May 2025.
Abstract The use of isotopic analysis for human mobility, geolocation, and forensic identification has become common over the past two decades, yet its effectiveness depends on the availability of well‐documented reference data. Many reference data exist in the literature, but the suitability of these data for forensic applications has not been ...
Kirsten A. Verostick, Alejandro Serna, Chris Stantis, Gabriel J. Bowen   +3 more
wiley   +1 more source

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta

American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.
ABSTRACT Osteogenesis Imperfecta (OI) is a heterogeneous skeletal dysplasia characterized by bone fragility, skeletal deformities, and short stature. Most commonly, it is caused by autosomal dominant variants in the type I collagen genes, COL1A1 or COL1A2.
Dominyka Batkovskyte, Diana Swolin‐Eide, Anna Hammarsjö, Kristine Bilgrav Sæther, Sofia Thunström, Johanna Lundin, Jesper Eisfeldt, Anna Lindstrand, Ann Nordgren, Eva Åström, Giedre Grigelioniene   +10 more
wiley   +1 more source

Amelogenesis Imperfecta; Genes, Proteins, and Pathways [PDF]

Frontiers in Physiology, 2017
Amelogenesis imperfecta (AI) is the name given to a heterogeneous group of conditions characterized by inherited developmental enamel defects. AI enamel is abnormally thin, soft, fragile, pitted and/or badly discolored, with poor function and aesthetics, causing patients problems such as early tooth loss, severe embarrassment, eating difficulties, and ...
Claire E. L. Smith, Claire E. L. Smith, James A. Poulter, Agne Antanaviciute, Jennifer Kirkham, Steven J. Brookes, Chris F. Inglehearn, Alan J. Mighell, Alan J. Mighell   +8 more
openaire   +5 more sources

A Missense Variant Affecting the N‐Terminal Domain of the Laminin‐332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report

Pediatric Dermatology, Volume 42, Issue 2, Page 410-412, March/April 2025.
ABSTRACT Junctional epidermolysis bullosa (JEB) is a rare genodermatosis characterized by fragility of the skin and mucous membranes due to alterations in the dermal epidermal junction. This condition manifests as mechanically induced bullous lesions that heal with hypertrophic granulation tissue and/or atrophic scars.
Marina Goldoni, Barbara Torres, Maurizio Pettinato, Alessia Gennaro, Tommaso Biagini, Angelo Giuseppe Condorelli, Rosanna Monetta, Tommaso Mazza, Laura Bernardini, Teresa Mattina   +9 more
wiley   +1 more source

Revisiting Linear Enamel Hypoplasia in Cayo Santiago Rhesus Macaques (Macaca mulatta): How a Stress Marker Relates to Environment and Maternal Lineage in a Rare Rhesus Colony With Known Life History

American Journal of Primatology, Volume 87, Issue 2, February 2025.
Linear enamel hypoplasia (LEH) prevalence in the teeth of Cayo Santiago rhesus monkeys (Macaca mulatta). Defects matched on right and left teeth and the increase in the frequency of LEH by decade. ABSTRACT Linear enamel hypoplasias (LEHs) are development defects appearing as lines or grooves on enamel surfaces.
Debbie Guatelli‐Steinberg, Julianna Watson, Liya Samuel, Emma Showalter, Finn Lerner, Emilie Dixon, Terry B. Kensler, George Francis, Elizabeth Maldonado, Luci A. P. Kohn, Martin Q. Zhao, Qian Wang   +11 more
wiley   +1 more source

Amelogenesis imperfecta: A clinician′s challenge

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2012
Defective enamel formation can be explained as defects occurring at the stages of enamel formation. Quantitative defects in matrix formation leads to hypoplastic form of amelogenesis imperfecta. Inadequate mineralization of matrix leads to hypocalcification and hypomaturation variants.
V Chamarthi, M Jayanthi, B R Varma
openaire   +4 more sources

Knowledge and management of molar–incisor hypomineralisation amongst dentists in The Netherlands

International Journal of Paediatric Dentistry, Volume 35, Issue 1, Page 22-32, January 2025.
Abstract Background Molar–incisor hypomineralisation (MIH) is a frequently encountered dental condition in the clinical setting, and correct diagnosis can influence management outcomes. Aim To assess the knowledge of and attitudes towards the management of MIH amongst dentists in the Netherlands.
Foteini Papanikolaou, Daniela Hesse, David J. Manton, Josef J. Bruers, Elsa Garot, Clarissa Calil Bonifácio   +5 more
wiley   +1 more source

Navigating the Complexities of Molar Incisor Hypomineralization: Challenges and Strategies in Pediatric Dentistry

International Journal of Dentistry, Volume 2025, Issue 1, 2025.
Background: Molar incisor hypomineralization (MIH) presents a multifaceted challenge in pediatric dentistry, impacting diagnostics, clinical management, resource accessibility, and psychosocial care. The condition’s complexity is exacerbated by diagnostic variability, overlapping clinical symptoms, and the need for tailored treatment approaches ...
Zuhair Al-Nerabieah, Muaaz AlKhouli, Mayssoon Dashash, Sivakumar Nuvvula   +3 more
wiley   +1 more source