Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

Literature DB >> 6770679

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

F Hu, J M Hanifin, G H Prescott, A C Tongue.

Abstract

This report describes three sisters, including monozygotic (MZ) twins, with clinical, ultrastructural, and histochemical features typical of yellow mutant albinism; This form of albinism is clinically similar to the tyrosinase-positive type, but hair bulbs showed (1) organelles similar to red hair pheomelanosomes and (2) absence of tyrosinase activity. Classical tyrosinase-negative albinism was found in a maternal cousin of the probands. Pedigree analysis of this family suggests multiple alleles occupying a single locus.

Entities: Disease Gene

Mesh：

Substances：

Year: 1980 PMID： 6770679 PMCID： PMC1686057

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

9 in total

1. The melanocytes of mammals.

Authors: R E BILLINGHAM; W K SILVERS
Journal: Q Rev Biol Date: 1960-03 Impact factor: 4.875

2. Quantitative and qualitative data on the pigment cells of adult human epidermis.

Authors: R J STARICCO; H PINKUS
Journal: J Invest Dermatol Date: 1957-01 Impact factor: 8.551

3. Melanoma Studies: II. A Simple Technique for the Dopa Reaction.

Authors: G F Laidlaw; S N Blackberg
Journal: Am J Pathol Date: 1932-09 Impact factor: 4.307

4. Ultrastructural study of pigment cells of human red hair.

Authors: P Stanka
Journal: Cell Tissue Res Date: 1974-07-12 Impact factor: 5.249

5. A low-viscosity epoxy resin embedding medium for electron microscopy.

Authors: A R Spurr
Journal: J Ultrastruct Res Date: 1969-01

6. Amish albinism: a distinctive autosomal recessive phenotype.

Authors: W E Nance; C E Jackson; C J Witkop
Journal: Am J Hum Genet Date: 1970-09 Impact factor: 11.025

7. Albinism and abnormal platelet function.

Authors: L J Logan; S I Rapaport; I Maher
Journal: N Engl J Med Date: 1971-06-17 Impact factor: 91.245

8. Melanin pigmentation in mammals.

Authors: G Prota; R H Thomson
Journal: Endeavour Date: 1976-01 Impact factor: 0.444

9. The use of lead citrate at high pH as an electron-opaque stain in electron microscopy.

Authors: E S REYNOLDS
Journal: J Cell Biol Date: 1963-04 Impact factor: 10.539

9 in total

6 in total

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

1. The melanocytes of mammals.

2. Quantitative and qualitative data on the pigment cells of adult human epidermis.

3. Melanoma Studies: II. A Simple Technique for the Dopa Reaction.

4. Ultrastructural study of pigment cells of human red hair.

5. A low-viscosity epoxy resin embedding medium for electron microscopy.

6. Amish albinism: a distinctive autosomal recessive phenotype.

7. Albinism and abnormal platelet function.

8. Melanin pigmentation in mammals.

9. The use of lead citrate at high pH as an electron-opaque stain in electron microscopy.

1. Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.

2. A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.

Review 3. Albinism: modern molecular diagnosis.

4. Allelism in human oculocutaneous albinism.

5. Vision in albinism.

6. Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.