Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
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چکیده
منابع مشابه
Does a pitch center exist in auditory cortex?
Pitch perception is an important component of hearing, allowing us to appreciate melodies and harmonies as well as recognize prosodic cues in speech. Multiple studies over the last decade have suggested that pitch is represented by a pitch-processing center in auditory cortex. However, recent data (Barker D, Plack CJ, Hall DA. Cereb Cortex. In press; Hall DA, Plack CJ. Cereb Cortex 19: 576-585,...
متن کاملTitle: Does a Pitch Center Exist in Auditory Cortex?
1 2 3 corresponding author: 4 Daniel Bendor 5 Picower Institute for Learning and Memory 6 Department of Brain and Cognitive Science 7 Massachusetts Institute of Technology 8 43 Vassar St., Bldg. 46, Rm. 5233 9 Cambridge, MA, USA. 10 [email protected] 11 12 13 14 keywords: pitch, fMRI, auditory cortex, lateral Hechl’s gyrus 15 16 17 18 acknowledgements: support provided by a Charles A. King Trust ...
متن کاملThe effect of vitamin A on the breakdown and synthesis of intercellular material in skeletal tissue in organ culture.
Moore, T . (1957). Vitamin A, p. 204. Amsterdam: Elsevier. Murray, T. K. (1962). Proc. SOC. exp. B i d , N.Y., 111, 609. Nelson, E. C., Dehority, B. A. & Teague, H. S. (1963). Fed. Proc. 22, 434. Pasternak, C. A., Humphries, S. K. & Pirie, A. (1963). Bi0chem.J. 86, 382. Pitt, G. A. J. & Morton, R. A. (1962). Annu. Rev. Biochem. 31, 491. Plack, P. A. (1960). Nature, Lond., 186, 234. Plack, P. A....
متن کاملEffect of Vitamin a Deficiency on the Content of Three Forms of Vitamin a in Hen's Eggs.
In the ripe eggs of all species of marine teleost fish so far examined, retinal (vitamin A aldehyde) is the predominant form of vitamin A, and in some species it represents 90% of the total vitamin A-active material in the eggs (Plack, Kon & Thompson, 1959; Plack & Kon, 1961). Hen’s eggs also contain retinal and, for forty-one eggs from six hens on a diet of breeder’s mash, a value of 21.7 pg/e...
متن کاملKnuckle pads.
Knuckle pads are well circumscribed thickenings of the skin over the metacarpophalangeal and, more commonly, the proximal interphalangeal joints. Although the association with several other clinical syndromes including Dupuytren's disease is well documented, most cases are idiopathic. We present a case of knuckle pads and briefly review the history and course of this disease.
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2015
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2014.12.026