Results 231 to 240 of about 232,020 (293)

Mosaic KRAS Variant as a Cause of Developmental Eye Anomalies in an Individual With EncephaloCranioCutaneous Lipomatosis

Clinical Genetics, EarlyView.
We describe a girl presenting with structural eye anomalies and a constellation of features suggestive of the mosaic RASopathy EncephaloCranioCutaneous Lipomatosis (ECCL). Tissue‐specific investigations identified a mosaic KRAS variant at a mutational hotspot (p.[Ala146Pro]), prompting appropriate tumour surveillance.
Karthikah Jeganathan, Fabiola Ceroni, Samuel J. H. Clokie, Nicole Motton Hill, Manoj Parulekar, Karl Johnson, Lidiya V. Talbot, Dorine A. Bax, Nicola K. Ragge   +8 more
wiley   +1 more source

Visceral Muscle Dysmotility Syndrome With Esophageal Aperistalsis (VMDS Tetrad): A Rare Initial Manifestation of Systemic Lupus Erythematosus. [PDF]

ACG Case Rep J
Kashyap S, Birda CL, Agarwal A, Agarwal A, Gogineni VC, Agarwal A.   +5 more
europepmc   +1 more source

Chromatin Remodeller BRD9 Orchestrates Odontoblastic Differentiation via Coordinating RUNX2‐KLF4

Cell Proliferation, EarlyView.
During odontoblast lineage commitment, the chromatin remodeller BRD9 acts as a critical epigenetic coordinator, orchestrating the chromatin landscape to facilitate synergistic binding of key transcription factors RUNX2 and KLF4 to target loci for odontogenesis.
Wenrui Zeng, Yuxiu Lin, Yongyan Gao, Delan Huang, Yuanyuan Li, Honglei Ruan, Guohua Yuan, Huan Liu, Zhi Chen   +8 more
wiley   +1 more source

Ultrasound-Guided Percutaneous Gastrostomy for Decompression of the Obstructed Excluded Stomach Following Roux-en-Y Gastric Bypass: A Case Report. [PDF]

Cureus
Tashbayev A, Liddle S, Short S.
europepmc   +1 more source

Olfactory Tuft Cells Are Critical to Basal Inflammation, Innate Immune Response to Viral Infection, and Modulation of Quiescent Stem Cell Activation, Proliferation and Differentiation

Cell Proliferation, EarlyView.
Olfactory tuft cells communicate with other mucosal cells in maintaining olfactory epithelial immunity and sensory function. Disruption of tuft cell signalling pathways causes a skewed immune response, leading to heightened inflammation and increased activation of the quiescent stem cells, which are further exacerbated by viral infection.
Sai‐Sai Zhang, Haiyan Wang, Yi‐Sen Yang, Yi‐Hong Li, Defu Yu, Yushi Yao, Ruhong Zhou, Liquan Huang   +7 more
wiley   +1 more source

The Iseult Coil, a Hybrid RF Coil for the First Human Brain Images at 11.7 T: Receive Performance Comparison With a Twin Coil at 7 T. [PDF]

NMR Biomed
Amadon A, Gapais PF, Ferrand G, Gras V, Mauconduit F, Le Ster C, Vignaud A, Boulant N, Luong M.   +8 more
europepmc   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Caecal volvulus around a Ladd's band in undiagnosed adult malrotation. [PDF]

J Surg Case Rep
Aabalou M, Deflaoui T, Derkaoui A, Chaayab AB, Baidri A, Boubacar A, Skiker I, Guellil A, Jabi R, Bouziane M.   +9 more
europepmc   +1 more source

Esthetic and adhesive properties of a novel colored fiber post: A restorative approach to an endodontic challenge

European Journal of Oral Sciences, EarlyView.
Abstract Colored fiber posts facilitate clinical retrieval but could impact esthetics and bonding. This study evaluated the color stability and dentin bond strength of a novel colored fiber post designed to facilitate post‐removal. Sixty premolars had root canal therapy and post space preparation.
Laís Lima Pelozo, Diana Codas‐Duarte, Camila Tirapelli, Manoel Damião Sousa‐Neto, Aline Evangelista Souza‐Gabriel   +4 more
wiley   +1 more source

Investigating the Relationship Between Physical Properties and Spatial Irregularities at Coronal Hole Boundaries. [PDF]

Sol Phys
Ngampoopun N, Long DM, Green LM, Yardley SL, James AW, Mason EI, Heinemann SG, Uritsky VM.   +7 more
europepmc   +1 more source