Loss of a particular protein causes growth defects in mice and humans
Through next-generation sequencing, investigators have identified a mutation in the TMCO3 gene in two sisters with short stature.
Aug 9, 2023
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Through next-generation sequencing, investigators have identified a mutation in the TMCO3 gene in two sisters with short stature.
Aug 9, 2023
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Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can ...
Jul 21, 2023
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Investigators from Cedars-Sinai have provided new understanding of how diabetes delays wound healing in the eye, identifying for the first time two related disease-associated changes to the cornea.
Jul 19, 2023
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An estimated 16 million people in the United States have alcohol use disorders (AUDs), according to the National Institutes on Alcohol Abuse and Alcoholism (NIAAA). Now, Indiana University researchers have made a substantial ...
Jul 17, 2023
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A new national study, led by researchers at Tufts Medical Center in Boston, has found whole genome sequencing (WGS) to be nearly twice as effective as a targeted gene sequencing test at identifying abnormalities responsible ...
Jul 13, 2023
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Systemic lupus erythematosus (SLE) is a typical autoimmune rheumatic disease. This multifactorial condition results from a combination of multiple genetic and acquired factors. Human leukocyte antigen (HLA), which is responsible ...
Jul 5, 2023
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Researchers at The University of Texas MD Anderson Cancer have engineered a new model of aggressive renal cell carcinoma (RCC), highlighting molecular targets and genomic events that trigger chromosomal instability and drive ...
Jun 26, 2023
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The American College of Medical Genetics and Genomics (ACMG) has released its highly anticipated 2023 update to the recommended minimum gene list for the reporting of secondary findings (SF): "ACMG SF v3.2 List for Reporting ...
Jun 22, 2023
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Have you ever wondered why only hummingbirds sip nectar from feeders?
Jun 16, 2023
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We have a good understanding of how a woman's external features can change during pregnancy, but scientists know surprisingly little about what biological changes occur internally.
Jun 13, 2023
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