Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback Hps5 Cause Oculocutaneous Albinism and the casper Phenotype. [PDF]
, 2017 Here, we present and characterize the spontaneous X-linked recessive mutation casper, which causes oculocutaneous albinism in threespine sticklebacks (Gasterosteus aculeatus).
Hart, James C, Miller, Craig T
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BMC Genetics, 2017 Background Eye pigmentation abnormalities in cattle are often related to albinism, Chediak-Higashi or Tietz like syndrome. However, mutations only affecting pigmentation of coat color and eye have also been described.
Anne K. Hollmann +6 more
doaj +1 more source
Further Analyses of the Safety of Verubecestat in the Phase 3 EPOCH Trial of Mild-To-Moderate Alzheimer’s Disease [PDF]
, 2019 Background: Verubecestat, a BACE1 inhibitor that reduces Aβ levels in the cerebrospinal fluid of humans, was not effective in a phase 3 trial (EPOCH) of mild-to-moderate AD and was associated with adverse events.
Aisen, Paul S. +12 more
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Neurologic and EEG Findings in Angelman Syndrome
Pediatric Neurology Briefs, 2005 The neurological and diagnostic aspects of Angelman syndrome (AS) are reviewed by a geneticist at the University of Florida, Gainesville, FL.
J Gordon Millichap
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A differential genome-wide transcriptome analysis : impact of cellular copper on complex biological processes like aging and development [PDF]
, 2012 The regulation of cellular copper homeostasis is crucial in biology. Impairments lead to severe dysfunctions and are known to affect aging and development.
Grimm, Carolin +3 more
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Evaluation of Suspected Cosmetic Induced Facial Dermatoses with the Use of Indian Standard Series and Cosmetic Series Patch Test [PDF]
Journal of Clinical and Diagnostic Research, 2015 Introduction: Awareness about skin beauty or cosmetic elegance has received worldwide attention in the present day youth oriented society. Along with careful detailed history and thorough examination patch test is considered cornerstone in diagnosis ...
Madhur Kant Rastogi +4 more
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Mechanistic studies of anti-hyperpigmentary compounds: elucidating their inhibitory and regulatory actions. [PDF]
, 2014 Searching for depigmenting agents from natural sources has become a new direction in the cosmetic industry as natural products are generally perceived as relatively safer.
Cheng, CH +3 more
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Development of skin hypopigmentation in a patient with metastatic papillary carcinoma thyroid treated with Sorafenib. [PDF]
, 2013 Background: Sorafenib can be considered as the effective option of treatment in patients with metastatic radioiodine refractory differentiated thyroid cancers. The cutaneous manifestations of Sorafenib include rash, desquamation, hand foot skin reactions,
Asghar, Ali +3 more
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A Method of Drusen Measurement Based on the Geometry of Fundus Reflectance [PDF]
, 2003 BACKGROUND: The hallmarks of age-related macular degeneration, the leading cause of blindness in the developed world, are the subretinal deposits known as drusen.
A Abdelsalam +42 more
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Extragenital Blaschkoid lichen sclerosus et atrophicus in a child [PDF]
, 2018 Lichen sclerosus et atrophicus is a chronic inflammatory skin disease that typically affects prepubertal girls and peri- or post-menopausal women in genital and perineal areas. In some cases, it can also manifest as extragenital lesions.
Albornoz, Christian A +2 more
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