5,255 results match your criteria Albinism


An efficient androgenic embryogenesis and plant regeneration method through isolated microspore culture in timothy (Phleum pratense L.).

Authors:
Y-D Guo S Pulli

Plant Cell Rep 2000 Jul;19(8):761-767

Laboratory of Plant Physiology and Molecular Biology, Department of Biology, University of Turku, 20014, Turku, Finland Fax: +358-2-333,5549 e-mail: , , , , , FI.

A method employing isolated microspore culture was established for the androgenic embryogenesis of timothy (Phleum pratense L). Embryos/calli were obtained and green plants regenerated. The induction medium was PG-96 (1. Read More

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http://dx.doi.org/10.1007/s002990000193DOI Listing

Inborn errors of metabolism in the 21 century: past to present.

Ann Transl Med 2018 Dec;6(24):467

Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

The 21 century is an exciting time to be in the field of metabolic medicine. As with many fields, one of the keys to anticipating the future is to understand the past. The term "inborn error of metabolism" was first coined in 1908 by Sir Archibald Garrod, in reference to four disorders (alkaptonuria, pentosuria, cystinuria and albinism). Read More

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http://dx.doi.org/10.21037/atm.2018.11.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331363PMC
December 2018

Accommodation and near visual function in children with albinism.

Acta Ophthalmol 2019 Jan 31. Epub 2019 Jan 31.

St. Erik Eye Hospital, Stockholm, Sweden.

Purpose: Albinism degrades visual function due to developmental disorders of the eye and visual pathways, larger refractive errors, absent binocularity and poor fixation control. Reading spectacles is commonly prescribed in our clinic and well tolerated. The purpose was to evaluate whether the accommodative response is typical or affected in comparison to a reference group. Read More

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http://dx.doi.org/10.1111/aos.14040DOI Listing
January 2019

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1.

Sci Rep 2019 Jan 24;9(1):645. Epub 2019 Jan 24.

Department of Ophthalmology, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.

Oculocutaneous albinism (OCA) is a genetically heterogeneous disorder. Six genes are associated with autosomal recessive OCA (TYR, OCA2, TYRP1, SLC45A2, SLC24A5 and LRMDA), and one gene, GPR143, is associated with X-linked ocular albinism (OA). Molecular genetic analysis provides a genetic diagnosis in approximately 60% of individuals with clinical OA/OCA. Read More

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http://dx.doi.org/10.1038/s41598-018-37272-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345944PMC
January 2019
1 Read

One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.

JCI Insight 2019 Jan 24;4(2). Epub 2019 Jan 24.

National Eye Institute and.

Background: Oculocutaneous albinism (OCA) results in reduced melanin synthesis, skin hypopigmentation, increased risk of UV-induced malignancy, and developmental eye abnormalities affecting vision. No treatments exist. We have shown that oral nitisinone increases ocular and fur pigmentation in a mouse model of one form of albinism, OCA-1B, due to hypomorphic mutations in the Tyrosinase gene. Read More

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http://insight.jci.org/articles/view/124387
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http://dx.doi.org/10.1172/jci.insight.124387DOI Listing
January 2019
5 Reads

Congenital neutropenia and primary immunodeficiency diseases.

Crit Rev Oncol Hematol 2019 Jan 13;133:149-162. Epub 2018 Oct 13.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address:

Neutropenia is a dangerous and potentially fatal condition that renders patients vulnerable to recurrent infections. Its severity is commensurate with the absolute count of neutrophil granulocytes in the circulation. In paediatric patients, neutropenia can have many different aetiologies. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10408428173049
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http://dx.doi.org/10.1016/j.critrevonc.2018.10.003DOI Listing
January 2019
6 Reads
4.027 Impact Factor

Bleeding Assessment in female patients with the Hermansky-Pudlak syndrome - A Case Series.

Eur J Haematol 2019 Jan 19. Epub 2019 Jan 19.

Department of Surgery, School of Medicine, Medical Sciences Campus, Universityof Puerto Rico.

The Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous group of autosomal recessive disorders characterized by: oculocutaneous albinism (OCA); bleeding diathesis; and other systemic complications including: chronic granulomatous colitis, and pulmonary fibrosis. Despite HPS being a rare genetic disease worldwide, it is the most common single-gene disorder in the island of Puerto Rico (PR), particularly in the northwestern region, where it occurs with a frequency of 1:1,800 and where carrier frequency is estimated to be 1 out of 21 citizens. HPS thus represents a significant public health issue in PR. Read More

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http://dx.doi.org/10.1111/ejh.13210DOI Listing
January 2019

Dermoscopy of naevi in patients with oculocutaneous albinism.

Clin Exp Dermatol 2019 Jan 17. Epub 2019 Jan 17.

Dermatology Department, Hospital Universitario Professor Edgard Santos, Federal University of Bahia, Bahia, Brazil.

Oculocutaneous albinism (OCA) increases predisposition to skin malignancies. Nevertheless, the differential diagnosis between melanoma and naevi in patients with OCA is still challenging, because pigmentary lesions have rarely been described in this population. We aimed to describe the dermoscopic patterns of naevi in patients with OCA. Read More

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http://doi.wiley.com/10.1111/ced.13903
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http://dx.doi.org/10.1111/ced.13903DOI Listing
January 2019
4 Reads

The Oculome panel test: next-generation sequencing to diagnose a diverse range of genetic developmental eye disorders.

Ophthalmology 2019 Jan 14. Epub 2019 Jan 14.

UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, UK. Electronic address:

Purpose: To develop a comprehensive next-generation sequencing panel assay which screens genes known to cause developmental eye disorders and inherited eye disease (Oculome test) and to evaluate its diagnostic yield in a paediatric cohort with malformations of the globe, anterior segment anomalies and/or childhood glaucoma.

Design: Evaluation of diagnostic test.

Participants: 277 children age 0-16 years diagnosed with nonsyndromic or syndromic developmental eye defects without a genetic diagnosis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183185
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http://dx.doi.org/10.1016/j.ophtha.2018.12.050DOI Listing
January 2019
7 Reads

[Advances in research of synergistic divergence].

Zhonghua Yan Ke Za Zhi 2019 Jan;55(1):63-67

Clinical College of Ophthalmology of Tianjin Medical University, Tianjin Eye Hospital and Institute, Tianjin Key Laboratory of Ophthalmology and Vision Science, Tianjin 300020, China.

Synergistic divergence is a rare condition characterized by complete absence of adduction that is associated with simultaneous abduction of the affected eye on attempted adduction. This causes the affected eye to move further into abduction on gaze to the normal side and results in extreme divergence of both eyes. It is sometimes referred to as exotropic Duane syndrome with synergistic divergence (type 4 Duane syndrome) or congenital fibrosis syndrome with synergistic divergence. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0412-4081.2019.01.015DOI Listing
January 2019
1 Read

Foveal hypoplasia and optical coherence tomographic imaging.

Authors:
Hiroyuki Kondo

Taiwan J Ophthalmol 2018 Oct-Dec;8(4):181-188

Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.

Foveal hypoplasia is a retinal disorder in which there is a lack of full development of the morphology of the fovea. The optical coherence tomography (OCT) and functional findings are presented in relation to the underlying genetic and developmental conditions. Recent advancements of high-resolution OCT imaging have unveiled characteristics of foveal hypoplasia that were not detected by conventional imaging methods. Read More

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http://dx.doi.org/10.4103/tjo.tjo_101_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302563PMC
January 2019

Infantile-onset inflammatory bowel disease in a patient with Hermansky-Pudlak syndrome: a case report.

BMC Gastroenterol 2019 Jan 11;19(1). Epub 2019 Jan 11.

Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011, Japan.

Background: Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding diatheses that reflect a platelet storage pool deficiency. Ten genetic subtypes of this autosomal recessive condition have been described to date. Some patients with Hermansky-Pudlak syndrome type 1, 4, or 6 develop Crohn's-like inflammatory bowel disease at any age including early childhood, but most often in adolescence or young adulthood. Read More

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https://bmcgastroenterol.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/s12876-019-0929-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329123PMC
January 2019
10 Reads

Changes in the biochemical parameters of albino, hyperhydric and normal green leaves of Caladium bicolor cv. "Bleeding hearts" in vitro long-term cultures.

Authors:
Tasiu Isah

J Photochem Photobiol B 2019 Feb 27;191:88-98. Epub 2018 Dec 27.

Department of Botany, School of Chemical and Life Sciences, Hamdard University, New Delhi 110 062, India. Electronic address:

Caladium bicolor is an excellent landscape and pot plant grown for its ornamental value due to the varied shapes and multi-colored foliage. However, the ornamental value of in vitro clonally propagated plants is affected by the occurrence of morpho-physiological anomalies in the long-term cultures. During the long-term culture of rhizome-derived shoot cultures of C. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10111344183116
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http://dx.doi.org/10.1016/j.jphotobiol.2018.12.017DOI Listing
February 2019
10 Reads
2.960 Impact Factor

Targeted disruption of tyrosinase causes melanin reduction in Carassius auratus cuvieri and its hybrid progeny.

Sci China Life Sci 2018 Dec 27. Epub 2018 Dec 27.

State Key Laboratory of Developmental Biology of Freshwater Fish, Hunan Normal University, Changsha, 410081, China.

The white crucian carp (Carassius auratus cuvieri, WCC) not only is one of the most economically important fish in Asia, characterized by strong reproductive ability and rapid growth rates, but also represents a good germplasm to produce hybrid progenies with heterosis. Gene knockout technique provides a safe and acceptant way for fish breeding. Achieving gene knockout in WCC and its hybrid progeny will be of great importance for both genetic studies and hybridization breeding. Read More

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http://dx.doi.org/10.1007/s11427-018-9404-7DOI Listing
December 2018

Partial Rescue of Ocular Pigment Cells and Structure by Inducible Ectopic Expression of Mitf-M in MITF-Deficient Mice.

Invest Ophthalmol Vis Sci 2018 Dec;59(15):6067-6073

Laboratory of Cancer Biology and Genetics, National Cancer Institute, National Insitutes of Health, Bethesda, Maryland, United States.

Purpose: Complete deficiency of microphthalmia transcription factor (MITF) in Mitfmi-vga9/mi-vga9 mice is associated with microphthalmia, retinal dysplasia, and albinism. We investigated the ability of dopachrome tautomerase (DCT) promoter-mediated inducible ectopic expression of Mitf-M to rescue these phenotypic abnormalities.

Methods: A new mouse line was created with doxycycline-inducible ectopic Mitf-M expression on an Mitf-deficient Mitfmi-vga9 background (DMV mouse). Read More

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http://dx.doi.org/10.1167/iovs.18-25186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6314104PMC
December 2018
1 Read

Reading speed of patients with infantile nystagmus for text in different orientations.

Vision Res 2019 Feb;155:17-23

College of Optometry, University of Houston, 4901 Calhoun Rd., Houston, TX 77204-2020, USA.

Two case studies in the literature report on patients with infantile nystagmus (IN) who preferred to read text that is oriented vertically rather than horizontally. The current study systematically evaluated the effect of text orientation (-60 to +90 deg with respect to horizontal) on reading speed in nine individuals with IN associated with albinism at Hadassah Academic College (HAC), seven individuals with IN at the University of Houston (UH), and a total of 17 normal control observers. Observers at HAC read 40-character passages of Hebrew text from standardized 2nd grade level reading material and observers at UH read MNRead acuity chart sentences. Read More

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http://dx.doi.org/10.1016/j.visres.2018.12.004DOI Listing
February 2019

Immunoreactivity of a G protein-coupled l-DOPA receptor GPR143, in Lewy bodies.

Neurosci Res 2018 Dec 24. Epub 2018 Dec 24.

Laboratory of Neuropathology, Tokyo Metropolitan Institute of Medical Sciences, Tokyo 156-8506, Japan. Electronic address:

l-3,4-Dihydroxyphenylalanine (l-DOPA) has been believed to be an inert amino acid precursor of dopamine, and is the most effective therapeutic agent in Parkinson's disease (PD). We proposed l-DOPA as a neurotransmitter in the central nervous system. Recently, the ocular albinism 1 gene product, OA1/GPR143 (GPR143), was identified as a receptor for l-DOPA. Read More

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http://dx.doi.org/10.1016/j.neures.2018.12.004DOI Listing
December 2018

X-linked Ocular Albinism.

Adv Exp Med Biol 2018 ;1085:49-52

Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute, NewYork-Presbyterian Hospital, New York, NY, USA.

The prevalence of X-linked ocular albinism (XLOA) is about 1 in 60,000 males. It affects only the eyes; the color of the skin and hairs are normal. Patients usually present with reduced vision, photophobia, nystagmus, and strabismus. Read More

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http://dx.doi.org/10.1007/978-3-319-95046-4_11DOI Listing
January 2018
1 Read

Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome.

Pediatr Dermatol 2019 Jan 18;36(1):72-84. Epub 2018 Dec 18.

University of Florida College of Medicine, Gainesville, Florida.

Melanocyte development is orchestrated by a complex interconnecting regulatory network of genes and synergistic interactions. Piebaldism and Waardenburg syndrome are neurocristopathies that arise from mutations in genes involved in this complex network. Our understanding of melanocyte development, Piebaldism, and Waardenburg syndrome has improved dramatically over the past decade. Read More

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http://dx.doi.org/10.1111/pde.13713DOI Listing
January 2019

A case report: Co-occurrence of Wilson disease and oculocutaneous albinism in a Chinese patient.

Medicine (Baltimore) 2018 Dec;97(50):e13744

The Affiliated Hospital of the Neurology Institute of Anhui University of Chinese Medicine, Hefei, Anhui, China.

Rationale: Both Wilson disease (WD) and Oculocutaneous Albinism (OCA) are rare autosomal recessive disorders that are caused by mutations on chromosome 13 and chromosome 11, respectively. Here, we report on a patient with coexisting WD and OCA, initially presenting episodes of tremors.

Patient Concerns: WD is a disorder of copper metabolism. Read More

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http://dx.doi.org/10.1097/MD.0000000000013744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320091PMC
December 2018
2 Reads

Identification of a novel mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.

J Genet 2018 12;97(5):1479-1484

Department of Ophthalmology, Seoul National University Hospital, Seoul, South Korea.

Ocular albinism type 1 (OA1) is an X-linked inherited disease characterized by impaired visual acuity, congenital nystagmus, foveal hypoplasia, hypopigmentation of iris and fundus. It is caused by mutations in the G protein-coupled receptor143 () gene. The genetic characteristics of OA1 have not been well defined in Asians. Read More

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December 2018
4 Reads

Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism.

Eur J Ophthalmol 2018 Dec 12:1120672118818322. Epub 2018 Dec 12.

Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

Purpose:: To study electroretinograms in infantile nystagmus syndrome associated with idiopathic infantile nystagmus, optic nerve hypoplasia, and albinism.

Methods:: A total of 30 children with idiopathic infantile nystagmus, 18 with optic nerve hypoplasia, and 18 with albinism were studied. Three electroretinogram protocols were applied according to child's age: 58 (mean: 2. Read More

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http://dx.doi.org/10.1177/1120672118818322DOI Listing
December 2018
1 Read

Imaging retinal melanin: a review of current technologies.

J Biol Eng 2018 4;12:29. Epub 2018 Dec 4.

1Morgridge Institute for Research, Madison, WI USA.

The retinal pigment epithelium (RPE) is essential to the health of the retina and the proper functioning of the photoreceptors. The RPE is rich in melanosomes, which contain the pigment melanin. Changes in RPE pigmentation are seen with normal aging and in diseases such as albinism and age-related macular degeneration. Read More

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http://dx.doi.org/10.1186/s13036-018-0124-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280494PMC
December 2018

Multimodal imaging in a patient with Prader-Willi syndrome.

Int J Retina Vitreous 2018 30;4:45. Epub 2018 Nov 30.

Gavin Herbert Eye Institute, University of California Irvine, 850 Health Sciences Road, Irvine, CA 92697 USA.

Background: Prader-Willi syndrome (PWS) is a genetic disease caused by loss of expression of the paternally inherited copy of several genes on the long arm of chromosome 15. Ophthalmic manifestations of PWS include strabismus, amblyopia, nystagmus, hypopigmentation of the iris and choroid, diabetic retinopathy, cataract and congenital ectropion uvea. An overlap between PWS and oculocutaneous albinism (OCA) has long been recognized and attributed to deletion of OCA2 gene located in PWS critical region (PWCR). Read More

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https://journalretinavitreous.biomedcentral.com/articles/10.
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http://dx.doi.org/10.1186/s40942-018-0147-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267888PMC
November 2018
9 Reads

Melanocyte Differentiation From Induced Pluripotent Stem Cells Derived From Human Adipose-Derived Stem Cells.

Ann Plast Surg 2019 Jan;82(1S Suppl 1):S119-S125

Division of Plastic and Reconstructive Surgery, Department of Surgery, Tri-Service General Hospital, National Defense Medical Center.

The pigment melanin is produced by melanocytes, is primarily responsible for skin color, and protects it against ultraviolet rays that can cause the destruction of genetic material within the keratinocytes. To elucidate the mechanisms of many diseases associated with melanocytes, such as melanoma and albinism, or burns with uneven pigment distribution, the disease model needs to be established first. In this study, we aimed to construct the melanocyte model from patients in a short period. Read More

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http://dx.doi.org/10.1097/SAP.0000000000001698DOI Listing
January 2019
2 Reads

Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143.

Stem Cell Res 2018 Dec 28;33:274-277. Epub 2018 Nov 28.

Stein Eye Institute, Department of Ophthalmology, UCLA School of Medicine, Los Angeles, CA 90095, USA; Molecular Biology Institute, UCLA, Los Angeles, CA 90095, USA; Brain Research Institute, UCLA, Los Angeles, CA 90095, USA.

Ocular albinism type 1 is a genetic eye disease caused by mutations in the GPR143 gene. Little is known about the molecular pathways involved in this disease and no therapeutic candidate has been identified as yet. Here we report the generation of an iPSC line from the skin fibroblasts of a patient with a mutation in the GPR143 gene using Sendai Virus vectors. Read More

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http://dx.doi.org/10.1016/j.scr.2018.11.016DOI Listing
December 2018
12 Reads

Aberrant visual pathway development in albinism: From retina to cortex.

Hum Brain Mapp 2019 Feb 4;40(3):777-788. Epub 2018 Dec 4.

Radiological Sciences, Division of Clinical Neuroscience, University of Nottingham, Queen's Medical Centre, Nottingham, United Kingdom.

Albinism refers to a group of genetic abnormalities in melanogenesis that are associated neuronal misrouting through the optic chiasm. We perform quantitative assessment of visual pathway structure and function in 23 persons with albinism (PWA) and 20 matched controls using optical coherence tomography (OCT), volumetric magnetic resonance imaging (MRI), diffusion tensor imaging and visual evoked potentials (VEP). PWA had a higher streamline decussation index (percentage of total tractography streamlines decussating at the chiasm) compared with controls (Z = -2. Read More

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http://dx.doi.org/10.1002/hbm.24411DOI Listing
February 2019
1 Read

Artificial Pigmented Human Skin Created by Muse Cells.

Adv Exp Med Biol 2018 ;1103:255-271

Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan.

The skin composes physiological and chemical barrier and renews skin component cells throughout the human life. Melanocytes locate in the basal layer of the epidermis and produce melanin to protect the skin from ultraviolet. Melanin plays key roles in determining human skin and hair color. Read More

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http://dx.doi.org/10.1007/978-4-431-56847-6_14DOI Listing
January 2018

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address:

Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of secretory lysosomes. Mutations in AP3D1 which encode the main subunit AP-3(δ) were recently reported on one individual and led to Hermansky-Pudlak Syndrome type 10 (HPS10; OMIM 617050). Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.017DOI Listing
November 2018

Aminoluciferin 4-hydroxyphenyl amide enables bioluminescence detection of endogenous tyrosinase.

Org Biomol Chem 2018 Dec;16(47):9197-9203

Department of Medicinal Chemistry, Key Laboratory of Chemical Biology (MOE), School of Pharmacy, Shandong University, Jinan, Shandong 250012, China.

Tyrosinase, a copper-containing enzyme existing widely in plants, animals and microorganisms, usually serves as an important biomarker in melanoma, and is also related to hyperpigmentation of the skin, melasma, age spots and albinism. At present, only one bioluminescent probe has been applied to image tyrosinase in cells. Thus, it's of great significance to develop a new bioluminescent probe that can detect tyrosinase in living cells and in live animals. Read More

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http://dx.doi.org/10.1039/c8ob01777hDOI Listing
December 2018
5 Reads

Daylight Photodynamic Therapy in the Treatment of Actinic Keratosis in Carriers of Oculocutaneous Albinism: Report of Three Cases.

Actas Dermosifiliogr 2018 Nov 17. Epub 2018 Nov 17.

Centro de Dermatología «Dona Libânia», Fortaleza, Brasil.

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http://dx.doi.org/10.1016/j.ad.2018.02.035DOI Listing
November 2018
2 Reads

The Molecular Basis of Chemical Chaperone Therapy for Oculocutaneous Albinism Type 1A.

J Invest Dermatol 2018 Nov 14. Epub 2018 Nov 14.

Department of Dermatology, Osaka City General Hospital, Osaka, Japan.

Oculocutaneous albinism (OCA) is an autosomal recessive disease characterized by the reduction or complete lack of melanin pigment in the skin, hair, and eyes. No effective treatment for OCA is available at present. OCA type 1 is caused by mutations that disrupt the function of tyrosinase (TYR), the rate-limiting enzyme of melanin synthesis. Read More

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http://dx.doi.org/10.1016/j.jid.2018.10.033DOI Listing
November 2018

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Int J Cancer 2018 Nov 10. Epub 2018 Nov 10.

Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands.

Germline mutations in the major melanoma susceptibility gene CDKN2A explain genetic predisposition in only 10-40% of melanoma-prone families. In our study we comprehensively characterized 488 melanoma cases from 451 non-CDKN2A/CDK4 families for mutations in 30 established and candidate melanoma susceptibility genes using a custom-designed targeted gene panel approach. We identified (likely) pathogenic variants in established melanoma susceptibility genes in 18 families (n = 3 BAP1, n = 15 MITF p. Read More

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http://doi.wiley.com/10.1002/ijc.31984
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http://dx.doi.org/10.1002/ijc.31984DOI Listing
November 2018
16 Reads

A 40-Year-Old Man With Albinism and Progressive Dyspnea.

Chest 2018 Nov;154(5):e143-e146

Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN.

Case Presentation: A 40-year-old male subject employed as a grocery store manager presented to a pulmonary clinic with a dry cough and progressive dyspnea of 1 year duration. The patient was previously an avid cyclist and first noted his dyspnea when he was unable to bike as far as before. Bilateral interstitial lung infiltrates were recently noted on chest radiography. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00123692183081
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http://dx.doi.org/10.1016/j.chest.2018.05.032DOI Listing
November 2018
2 Reads

The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density.

Invest Ophthalmol Vis Sci 2018 Nov;59(13):5336-5348

Cell Biology, Neurobiology & Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, United States.

Purpose: Directional optical coherence tomography (D-OCT) allows the visualization of the Henle fiber layer (HFL) in vivo. Here, we used D-OCT to characterize the HFL and outer nuclear layer (ONL) in albinism and examine the relationship between true foveal ONL and peak cone density.

Methods: Horizontal D-OCT B-scans were acquired, registered, and averaged for 12 subjects with oculocutaneous albinism and 26 control subjects. Read More

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.18-24145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6219160PMC
November 2018
10 Reads

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2018 Nov 5. Epub 2018 Nov 5.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole-exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non-syndromic hearing loss (NSHL). Read More

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
November 2018
12 Reads
3.931 Impact Factor

Instability of BLOC-2 and BLOC-3 in Chinese Patients with Hermansky-Pudlak Syndrome.

Pigment Cell Melanoma Res 2018 Nov 2. Epub 2018 Nov 2.

Beijing Key Laboratory for Genetics of Birth Defects; MOE Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Hermansky-Pudlak syndrome (HPS) is a rare recessive disorder characterized by oculocutaneous albinism (OCA) or ocular albinism (OA), bleeding tendency and other symptoms due to multiple defects in tissue-specific lysosome-related organelles. Ten HPS subtypes have been characterized with mutations in HPS1 to HPS10, which encode the subunits of BLOC-1, -2, -3, and AP-3. Using next-generation sequencing (NGS), we have screened 100 hypopigmentation genes in OCA or OA patients and identified four HPS-1, one HPS-3, one HPS-4, one HPS-5, and three HPS-6. Read More

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http://dx.doi.org/10.1111/pcmr.12748DOI Listing
November 2018
1 Read
4.620 Impact Factor

Universal ocular screening of 481 infants using wide-field digital imaging system.

BMC Ophthalmol 2018 Oct 30;18(1):283. Epub 2018 Oct 30.

Department of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Sciences Key Lab, 1 Dongjiaominxiang, Dongcheng District, Beijing, 100730, China.

Background: Universal ocular screening of infants is not a standard procedure in children's health care system in China. This pilot study investigated prevalence of ocular abnormalities of 6 weeks-age infants using wide-field digital imaging system.

Methods: Infants aged 6 weeks around were consecutively enrolled in a public hospital between April 2015 and August 2016. Read More

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https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12
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http://dx.doi.org/10.1186/s12886-018-0943-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6208088PMC
October 2018
15 Reads

Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Am J Med Genet A 2018 Dec 4;176(12):2819-2823. Epub 2018 Oct 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Heřmanský-Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type 6 (HPS-6) is an uncommon subtype generally associated with mild disease. A Caucasian adult female presented with a history of severe bleeding; ophthalmologic examination indicated occult oculocutaneous albinism. Read More

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http://doi.wiley.com/10.1002/ajmg.a.40514
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http://dx.doi.org/10.1002/ajmg.a.40514DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312461PMC
December 2018
21 Reads

Synchronous Triple Malignancies in an Indian Albino: A Case Report.

Cureus 2018 Aug 23;10(8):e3190. Epub 2018 Aug 23.

Pediatrics, Church of South India Kalyani Multispeciality Hospital, Chennai , IND.

Oculocutaneous albinism (OCA) is a heterogenous disorder of skin pigmentation characterized by hypopigmentation of the skin, hair, and eyes. The absence of melanin predisposes these individuals to ultraviolet rays induced malignancies. Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) in OCA have been rarely reported. Read More

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https://www.cureus.com/articles/14182-synchronous-triple-mal
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http://dx.doi.org/10.7759/cureus.3190DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199145PMC
August 2018
2 Reads

Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3.

Invest Ophthalmol Vis Sci 2018 Oct;59(12):4945-4952

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.

Purpose: Oral nitisinone has been shown to increase fur and ocular pigmentation in a mouse model of oculocutaneous albinism (OCA) due to hypomorphic mutations in tyrosinase (TYR), OCA1B. This study determines if nitisinone can improve ocular and/or fur pigmentation in a mouse model of OCA type 3 (OCA3), caused by mutation of the tyrosinase-related protein 1 (Tyrp1) gene.

Methods: Mice homozygous for a null allele in the Tyrp1 gene (C57BL/6J-Tyrp1 b-J/J) were treated with 8 mg/kg nitisinone or vehicle every other day by oral gavage. Read More

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http://dx.doi.org/10.1167/iovs.16-20293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6181301PMC
October 2018
2 Reads

Corrigendum: Neglected tumor in a female with albinism.

Pan Afr Med J 2018 28;30:63. Epub 2018 May 28.

Dermatology Division, Department of Medical Clinics, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.

[This corrects the article DOI: 10.11604/pamj.2017. Read More

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http://www.panafrican-med-journal.com/content/article/30/63/
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http://dx.doi.org/10.11604/pamj.2018.30.63.16071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191277PMC
May 2018
9 Reads

Changes in refractive errors in albinism: a longitudinal study over the first decade of life.

J AAPOS 2018 Dec 19;22(6):462-466. Epub 2018 Oct 19.

Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis; Department of Pediatrics, University of Minnesota, Minneapolis.

Purpose: To analyze longitudinal changes in refraction in patients with albinism.

Methods: The medical records of 481 patients were reviewed retrospectively to identify patients who had cycloplegic refractions at three ages: visit A, 0-18 months old; visit B, 4-6 years old; visit C, 8-10 years old. We recorded refraction, type of albinism, glasses wear, and best-corrected visual acuity at visit C. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10918531183054
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http://dx.doi.org/10.1016/j.jaapos.2018.08.005DOI Listing
December 2018
11 Reads

Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1.

Curr Med Sci 2018 Oct 20;38(5):932-936. Epub 2018 Oct 20.

Department of Laboratory Medicine, Huazhong University of Science and Technology, Wuhan, 430030, China.

Oculocutaneous albinism (OCA) is an autosomal recessive pigmentation abnormality, characterized by variable hair, skin, and ocular hypopigmentation. OCA1 is the most frequent subtype of OCA, caused by mutations in the tyrosinase gene (TYR). In this study, we investigated the genetic mutation of a Chinese family with a female OCA patient who came for genetic counseling before pregnancy. Read More

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http://dx.doi.org/10.1007/s11596-018-1965-3DOI Listing
October 2018
1 Read

Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome.

Pediatr Dermatol 2018 Nov 18;35(6):780-783. Epub 2018 Oct 18.

Department of Dermatology, National Institute of Pediatrics, Mexico City, Mexico.

Background/objectives: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. Read More

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http://dx.doi.org/10.1111/pde.13624DOI Listing
November 2018
5 Reads

Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome.

BMJ Case Rep 2018 Oct 12;2018. Epub 2018 Oct 12.

Royal College of Surgeons in Ireland, Dublin, Ireland.

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterised by oculocutaneous albinism, bleeding diathesis and end-stage renal disease (ESRD), due to interstitial deposition of ceroid lipofuscin. Renal transplantation is potentially a definitive treatment option for patients with ESRD due to HPS. Herein, we describe the case of a 55-year-old male patient with HPS that successfully underwent a living donor kidney transplant. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2017-22337
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http://dx.doi.org/10.1136/bcr-2017-223376DOI Listing
October 2018
1 Read

Beliefs about people with albinism in Uganda: A qualitative study using the Common-Sense Model.

PLoS One 2018 12;13(10):e0205774. Epub 2018 Oct 12.

School of Life Sciences, Albinism in Africa project, Coventry University, Coventry, United Kingdom.

Albinism includes a group of inherited conditions that result in reduced melanin production. It has been documented across the world, with a high frequency in sub-Saharan Africa. There is very little published research about the lives of people with albinism, but available evidence shows that myths abound regarding their condition. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0205774PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6185843PMC
October 2018
32 Reads

Transcriptomic analyses identify albino-associated genes of a novel albino tea germplasm 'Huabai 1'.

Hortic Res 2018 1;5:54. Epub 2018 Oct 1.

1College of Horticulture, Nanjing Agricultural University, Weigang No.1, 210095 Nanjing, China.

Albinism in shoots of tea plants is a common phenotypic expression which gives the tea infusion a pleasant umami taste. A novel natural albino mutant tea germplasm containing high amino acids content was found and named as 'Huabai 1'. 'Huabai 1' has white jade tender shoots under low temperature and turns green with increased temperature. Read More

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http://dx.doi.org/10.1038/s41438-018-0053-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6165850PMC
October 2018
3 Reads

The triennial International Pigment Cell Conference (IPCC).

J Transl Med 2018 Oct 3;16(1):252. Epub 2018 Oct 3.

Systems Biology and Cancer Metabolism, Program for Quantitative Systems Biology, University of California Merced, 5200 North Lake Road, Merced, CA, 95343, USA.

The International Federation of Pigment Cell Societies (IFPCS) held its XXIII triennial International Pigment Cell Conference (IPCC) in Denver, Colorado in August 2017. The goal of the summit was to provide a venue promoting a vibrant interchange among leading basic and clinical researchers working on leading-edge aspects of melanocyte biology and disease. The philosophy of the meeting, entitled Breakthroughs in Pigment Cell and Melanoma Research, was to deliver a comprehensive program in an inclusive environment fostering scientific exchange and building new academic bridges. Read More

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http://dx.doi.org/10.1186/s12967-018-1609-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169034PMC
October 2018
3 Reads