In this issue of Molecular Cell, Bao et al. set out to elucidate "functional lysines" in the genome using adenine base editors. The study reveals several cases of alteration of functions that previous canonical CRISPR-Cas9 screens were unable to detect.
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| http://dx.doi.org/10.1016/j.molcel.2023.11.037 | DOI Listing |
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Insights into pituitary stalk interruption syndrome: 2 cases that illuminate the condition.
Radiol Case Rep
March 2025
Pediatric Radiology Department, Children's Hospital, University Mohammed V of Rabat, Rabat, Morocco.
Pituitary stalk interruption syndrome (PSIS) is a congenital anatomical defect that leads to pituitary insufficiency, The symptoms are diverse, often leading to diagnostic delays or even misdiagnosis. MRI plays a crucial role in establishing an accurate diagnosis by revealing a characteristic radiological triad: a thin or absent pituitary stalk, an ectopic or missing posterior pituitary gland, and anterior pituitary hypoplasia. We herein describe 2 cases: 1 involving a 9-year-old boy and the other an 11-year-old girl, both diagnosed with PSIS.
View Article and Find Full Text PDFIncidental granular cell tumor at the ileocecal junction mimicking a lymph node metastasis in a patient with history of neuroendocrine tumor of the right colon.
Int J Clin Exp Pathol
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Department of Pathology and Laboratory Medicine, Lewis Katz School of Medicine, Temple University Philadelphia, PA 19140, USA.
Granular cell tumors are rare neoplasms originating from Schwann cells found in various organs. GCTs are seldom reported in the gastrointestinal tract. Pre-operative detection and diagnosis of colonic GCTs is challenging since the tumors are mainly asymptomatic, small, slow-growing, and submucosal.
View Article and Find Full Text PDFBackground: The goal of this study was to examine the effects of spinal cord stimulation (SCS) on muscle activity during walking after lower-limb amputation. Amputation results in a loss of sensory feedback and alterations in gait biomechanics, including co-contractions of antagonist muscles about the knee and ankle, and reduced pelvic obliquity range-of-motion and pelvic drop. SCS can restore sensation in the missing limb, but its effects on muscle activation and gait biomechanics have not been studied in people with lower-limb amputation.
View Article and Find Full Text PDFMixed Pulmonary Infection, Asthma, and Nephrotic Syndrome in a Patient Diagnosed with Selective IgA Deficiency: A Case Report.
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Zhejiang Provincial Hospital of Integrated Traditional Chinese and Western Medicine, Zhejiang, 310003, People's Republic of China.
Patients with selective IgA deficiency could have various clinical presentations ranging from asymptomatic to severe respiratory or gastrointestinal tract infection, as well as autoimmune disease and allergic reactions. Selective IgA deficiency is relatively common in Caucasians, but it is rare in the Asian population, meaning it could be easily missed in the clinic. In this study, we report a 26-year-old man with a history of asthma and nephrotic syndrome.
View Article and Find Full Text PDFCerebrovascular thrombosis is among the most critical medical conditions, making early diagnosis and management crucial. Although some symptoms of cerebrovascular thrombosis are typical and lead to early diagnosis, they can sometimes present with rare and unusual symptoms, complicating the diagnostic process. Given the morbidity and mortality associated with these events, it is important to be aware of unexpected symptoms to diagnose and manage these patients more accurately and rapidly.
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