5,229 results match your criteria Albinism


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

J Genet 2018 Dec;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
1 Read

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

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
5 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
5 Reads

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

Hum Brain Mapp 2018 Dec 4. 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
December 2018
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
2 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
1 Read

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 (OCA1) 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

Multi-gene 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 this 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
9 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
5 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
5 Reads
3.930 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
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
7 Reads

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

Am J Med Genet A 2018 Oct 4:e40514. 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
October 2018
10 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

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
6 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
3 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
1 Read

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
25 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
2 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
2 Reads

Frontiers in pigment cell and melanoma research.

Pigment Cell Melanoma Res 2018 Nov 3;31(6):728-735. Epub 2018 Oct 3.

Department of Dermatology, University of Colorado Denver, Aurora, Colorado.

In this perspective, we identify emerging frontiers in clinical and basic research of melanocyte biology and its associated biomedical disciplines. We describe challenges and opportunities in clinical and basic research of normal and diseased melanocytes that impact current approaches to research in melanoma and the dermatological sciences. We focus on four themes: (1) clinical melanoma research, (2) basic melanoma research, (3) clinical dermatology, and (4) basic pigment cell research, with the goal of outlining current highlights, challenges, and frontiers associated with pigmentation and melanocyte biology. Read More

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http://dx.doi.org/10.1111/pcmr.12728DOI Listing
November 2018
25 Reads

First report of partial albinism in the blue lobster (Bouvier, 1895) from the Mexican Pacific (Crustacea, Decapoda, Palinuridae).

Zookeys 2018 12(784):1-6. Epub 2018 Sep 12.

Departamento de Estudios para el Desarrollo Sustentable de Zonas Costeras, Universidad de Guadalajara Gómez Farías 82, San Patricio-Melaque, Jalisco, C.P. 48980 Mexico Universidad de Guadalajara San Patricio-Melaque Mexico.

The first case of partial albinism registered in the Mexican Pacific by the blue lobster is presented. The specimen was collected on the southern coast of Jalisco know as Punta "El Estrecho". It constitutes one of the few registered cases of albinism in invertebrates from the Eastern Tropical Pacific. Read More

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http://dx.doi.org/10.3897/zookeys.784.25082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160843PMC
September 2018
4 Reads

Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits.

EBioMedicine 2018 Oct 28;36:517-525. Epub 2018 Sep 28.

Jilin Provincial Key Laboratory of Animal Embryo Engineering, Institute of Zoonosis, Jilin University, Changchun 130062, China. Electronic address:

Background: Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by reduced melanin that are caused by mutations in the gene encoding tyrosinase (TYR), which is the rate-limiting enzyme in the production of the pigment melanin. Many studies or meta-analyses have suggested an association between the TYR T373K SNP and OCA1, but there is limited biochemical and genetic evidence to support this association.

Methods: We overexpressed TYR-WT and TYR-T373K mutants on HK293T cells and tested the changes of melanin production and tyrosinase activity. Read More

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http://dx.doi.org/10.1016/j.ebiom.2018.09.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197749PMC
October 2018

RETRACTED ARTICLE: Albinism and mosaicism in Apocynum venetum associated with viral infections in China.

Arch Virol 2018 Sep 28. Epub 2018 Sep 28.

State Key Laboratory of Grassland Agro-Ecosystems, Lanzhou University, Lanzhou, China.

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http://link.springer.com/10.1007/s00705-018-4059-4
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http://dx.doi.org/10.1007/s00705-018-4059-4DOI Listing
September 2018
2 Reads
2.282 Impact Factor

Activation of Wnt signaling reduces ipsilaterally projecting retinal ganglion cells in pigmented retina.

Development 2018 Nov 2;145(21). Epub 2018 Nov 2.

Department of Pathology and Cell Biology, Columbia University, College of Physicians and Surgeons, New York, NY 10027, USA

In mammalian albinism, disrupted melanogenesis in the retinal pigment epithelium (RPE) is associated with fewer retinal ganglion cells (RGCs) projecting ipsilaterally to the brain, resulting in numerous abnormalities in the retina and visual pathway, especially binocular vision. To further understand the molecular link between disrupted RPE and a reduced ipsilateral RGC projection in albinism, we compared gene expression in the embryonic albino and pigmented mouse RPE. We found that the Wnt pathway, which directs peripheral retinal differentiation and, generally, cell proliferation, is dysregulated in the albino RPE. Read More

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http://dx.doi.org/10.1242/dev.163212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240318PMC
November 2018
12 Reads

Burden of albinism: development and validation of a burden assessment tool.

Orphanet J Rare Dis 2018 Sep 18;13(1):162. Epub 2018 Sep 18.

EA EpiDermE, UPE-Université Paris-Est, Créteil, France.

Background: Albinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype. A comprehensive literature review showed that no tool can assess the burden experienced by individuals who present with albinism, although such a tool is needed and would be beneficial for clinicians and patients alike.

Method: The questionnaire was devised using standardized methodology for developing and validating questionnaires on the quality of life of subjects according to the following chronological structure: conceptual phase, development phase, and then validation phase. Read More

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http://dx.doi.org/10.1186/s13023-018-0894-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145119PMC
September 2018
1 Read

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.

BMC Med Genet 2018 Sep 15;19(1):170. Epub 2018 Sep 15.

Mechanical Assistance Device and Artificial Heart Unit, Department of Pediatric Cardiology and Cardiac Surgery, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

Background: Loeys-Dietz syndrome (LDS) is a rare multisystemic disorder characterized by vascular and skeletal abnormalities, with considerable intra- and interfamilial variability.

Case Presentation: We report the case of an 8-year-old male with clinical features of two distinct genetic disorders, namely LDS, manifesting in the first months by progressive aortic root dilatation, arterial tortuosity, bifid uvula, and inguinal hernias and oculocutaneous albinism (OCA) manifesting by white hair and skin that does not tan, nystagmus, reduced iris pigment with iris translucency, and reduced retinal pigment). We identified previously reported, homozygous mutations of TYR, c. Read More

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https://bmcmedgenet.biomedcentral.com/articles/10.1186/s1288
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http://dx.doi.org/10.1186/s12881-018-0661-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139163PMC
September 2018
6 Reads

Cas9 ribonucleoprotein complex allows direct and rapid analysis of coding and noncoding regions of target genes in Pleurodeles waltl development and regeneration.

Dev Biol 2018 11 10;443(2):127-136. Epub 2018 Sep 10.

Department of Mathematical and Life Sciences, Graduate School of Science, Hiroshima University, 1-3-1 Kagamiyama, Higashi-Hiroshima, Hiroshima 739-8526, Japan; National Institute for Basic Biology, Nishigonaka 38, Myodaiji, Okazaki, Aichi 444-8585, Japan. Electronic address:

Newts have remarkable ability to regenerate their organs and have been used in research for centuries. However, the laborious work of breeding has hampered reverse genetics strategies in newt. Here, we present simple and efficient gene knockout using Cas9 ribonucleoprotein complex (RNP) in Pleurodeles waltl, a species suitable for regenerative biology studies using reverse genetics. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00121606183021
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http://dx.doi.org/10.1016/j.ydbio.2018.09.008DOI Listing
November 2018
18 Reads

Significantly increased amino acid accumulation in a novel albino branch of the tea plant (Camellia sinensis).

Planta 2018 Sep 12. Epub 2018 Sep 12.

State Key Laboratory of Tea Plant Biology and Utilization, Anhui Agricultural University, 130 Changjiang West Road, Hefei, 230036, Anhui, China.

Main Conclusion: A normal tea plant with one albino branch was discovered. RNA sequencing, albinism phenotype and ultrastructural observations provided a valuable understanding of the albino mechanism in tea plants. Tea plants with a specific color (white or yellow) have been studied extensively. Read More

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http://dx.doi.org/10.1007/s00425-018-3007-6DOI Listing
September 2018
3 Reads

In silico screening of deleterious single nucleotide polymorphisms (SNPs) and molecular dynamics simulation of disease associated mutations in gene responsible for Oculocutaneous Albinism type 6 (OCA 6) disorder.

J Biomol Struct Dyn 2018 Sep 11:1-30. Epub 2018 Sep 11.

a Department of Computational Biology & Bioinformatics , Jacob Institute of Biotechnology & Bio-Engineering, Sam Higginbottom University of Agriculture, Technology and Sciences (SHUATS) Allahabad , 211007 , U.P. , India.

Solute carrier family 24 member 5 (SLC24A5) is a gene that is associated with Oculocutaneous albinism type 6 (OCA 6) disorder and is involved in skin and hair pigmentation. It is involved in the maturation of melanosomes and melanin synthesis. SLC24A5 gene is located in the chromosomal position of 15q21. Read More

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http://dx.doi.org/10.1080/07391102.2018.1520649DOI Listing
September 2018

Review of clinical approaches in fluorescence lifetime imaging ophthalmoscopy.

J Biomed Opt 2018 Sep;23(9):1-20

University Hospital Jena, Jena, Thuringia, Germany.

Autofluorescence-based imaging techniques have become very important in the ophthalmological field. Being noninvasive and very sensitive, they are broadly used in clinical routines. Conventional autofluorescence intensity imaging is largely influenced by the strong fluorescence of lipofuscin, a fluorophore that can be found at the level of the retinal pigment epithelium. Read More

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http://dx.doi.org/10.1117/1.JBO.23.9.091415DOI Listing
September 2018
1 Read

Acute Transient Sixth Nerve Palsy in Chediak-Higashi Syndrome.

J Pediatr Ophthalmol Strabismus 2018 Aug 29;55:e22-e25. Epub 2018 Aug 29.

Neurologic disorders in Chediak-Higashi syndrome are usually late presentations and also may manifest long after bone marrow stem cell transplantation. To the authors' knowledge, transient neurological deficit has not been reported yet. They describe a 6-year-old boy with Chediak-Higashi syndrome in the accelerated phase who presented with transient sixth nerve palsy. Read More

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https://www.healio.com/doiresolver?doi=10.3928/01913913-2018
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http://dx.doi.org/10.3928/01913913-20180806-02DOI Listing
August 2018
8 Reads

Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.

Annu Rev Genomics Hum Genet 2018 Aug;19:149-175

Division of Human Genetics, National Health Laboratory Service, and Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.

This review highlights molecular genetic studies of monogenic traits where common pathogenic mutations occur in black families from sub-Saharan Africa. Examples of founder mutations have been identified for oculocutaneous albinism, cystic fibrosis, Fanconi anemia, and Gaucher disease. Although there are few studies from Africa, some of the mutations traverse populations across the continent, and they are almost all different from the common mutations observed in non-African populations. Read More

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http://dx.doi.org/10.1146/annurev-genom-083117-021256DOI Listing
August 2018
8 Reads

Ocular albinism with infertility and late-onset sensorineural hearing loss.

Am J Med Genet A 2018 Jul;176(7):1587-1593

Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.

Ocular albinism type 1 (OA1) is caused by mutations in the GPR143 gene located at Xp22.2. The manifestations, which are due to hypopigmentation, are confined to the eyes and optic pathway. Read More

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http://dx.doi.org/10.1002/ajmg.a.38836DOI Listing
July 2018
1 Read

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis.

J Cutan Pathol 2018 Dec 25;45(12):918-922. Epub 2018 Sep 25.

Department of Dermatology, North DMC Medical College and Hindurao Hospital, New Delhi, India.

We herein illustrate a case of an adult male presenting with silvery hair and generalized guttate hypopigmented macules on a background of diffuse cutaneous hyperpigmentation, since birth. Histopathology showed enlarged melanocytes with abundant melanin. Based on these clinicopathological features, differential diagnoses considered were Griscelli syndrome 3 (GS3) and familial giagantic melanocytosis. Read More

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http://dx.doi.org/10.1111/cup.13342DOI Listing
December 2018

The Phenotypic Spectrum of Albinism.

Ophthalmology 2018 Dec 8;125(12):1953-1960. Epub 2018 Aug 8.

Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands.

Purpose: To describe the phenotypic spectrum of a large cohort of albino patients, to investigate the relationship between the ocular abnormalities and the visual acuity (VA), and to define diagnostic criteria for the white population. We also estimated the prevalence of albinism in The Netherlands.

Design: Retrospective cohort study. Read More

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http://dx.doi.org/10.1016/j.ophtha.2018.08.003DOI Listing
December 2018

Current Non-viral siRNA Delivery Systems as a Promising Treatment of Skin Diseases.

Curr Pharm Des 2018 ;24(23):2644-2663

School of Pharmaceutical Sciences of Ribeirao Preto, University of Sao Paulo, Avenida do Cafe, s/n, 14040903, Ribeirao Preto, SP, Brazil.

Background: Gene therapy is a new approach to discover and treat many diseases. It has attracted considerable attention from researchers in the last decades. The gene therapy through RNA interference has been considered one of the most recent and revolutionary approaches used in individualized therapy. Read More

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http://dx.doi.org/10.2174/1381612824666180807120017DOI Listing
January 2018
12 Reads

Long-term follow-up after vertical extraocular muscle surgery to correct abnormal vertical head posture.

Strabismus 2018 09 30;26(3):150-154. Epub 2018 Jul 30.

b Department of Ophthalmology , Stanford University School of Medicine , Stanford , CA , USA.

Purpose: To report outcomes of vertical extraocular muscle surgery to correct abnormal vertical head posture in children with horizontal infantile nystagmus.

Methods: Retrospective case series of seven patients evaluated at one institution with abnormal vertical head position (chin-up or chin-down) in the setting of horizontal infantile nystagmus. All patients underwent bilateral vertical extraocular muscle surgery with the same surgeon. Read More

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http://dx.doi.org/10.1080/09273972.2018.1497667DOI Listing
September 2018
9 Reads

Mutation and the Lung Phenotype.

Authors:
Kazuhiro Osanai

Int J Mol Sci 2018 Jul 27;19(8). Epub 2018 Jul 27.

Department of Life Science, Medical Research Institute, Kanazawa Medical University, 1-1 Uchinada-Daigaku, Kahokugun, Ishikawa 920-0293, Japan.

is highly expressed in alveolar type II cells, melanocytes, and platelets. These cells are specifically-differentiated cells and contain characteristic intracellular organelles called lysosome-related organelles, i.e. Read More

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http://dx.doi.org/10.3390/ijms19082203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122074PMC
July 2018
1 Read