Results 11 to 20 of about 63,073 (265)
Clinics in Plastic SurgeryThe primary function of the palate is to separate the nasal and oral cavities and facilitate the production of normal speech. The velar levator veli palatini (LVP) muscular sling is the palate speech motor. In the cleft palate, the LVP muscles are aberrantly sagittally oriented, which prevents their normal cranial, posterior, and lateral pull on the ...
Megan E, Pencek, Joseph E, Losee
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Seminars in Plastic Surgery, 2013 Our understanding of cleft palates has come a long way over the last few decades. A better understanding of the long-term consequences of a cleft palate and its effect on speech development challenges surgeons to not only effectively repair the cleft, but to also restore function of the palate for adequate speech.
Tomasz R, Kosowski +3 more
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Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
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Advanced Science, EarlyView.Lipid metabolic stress triggers ferroptosis in PDLSCs through the GSK3β/NRF2 pathway, thereby aggravating periodontal bone loss. Upregulated GSK3β promotes NRF2 ubiquitination and proteasomal degradation via β‐TrCP, suppressing NRF2 nuclear translocation and antioxidant target expression.
Yuxiao Zhang +11 more
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Advanced Science, EarlyView.The iPRF‐MA/Alg‐NHS/Lut@EGCG (PGAE) double‐network hydrogel achieves durable wet adhesion in the oral environment. It simultaneously reprograms neutrophils from NETosis to phagocytosis for biofilm clearance, and activates the FAK‐RhoA‐YAP mechanotransduction pathway in gingival fibroblasts to drive extracellular matrix remodeling, thereby promoting ...
Sicong Ren +9 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair +9 more
wiley +1 more source
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
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