Results 121 to 130 of about 502 (138)

Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)—A Molecular Dynamics Approach

Journal of Cellular Biochemistry, 2016
: Oculocutaneous albinism type IV (OCA4) is an autosomal recessive inherited disorder which is characterized by reduced biosynthesis of melanin pigmentation in skin, hair, and eyes and caused by the genetic mutations in the membrane-associated ...
Rituraj Purohit
exaly   +2 more sources

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POLYMORPHISM OF MC1R, MATP AND PMEL17 GENES IN BASHKIR HORSES

Horse breeding and equestrian sports, 2019
Башкирская лошадь является одной из старейших локальных пород, разводимых в Российской федерации. Целью исследования было изучение полиморфизма генов MC1R, MATP и PMEL17 у лошадей башкирской породы. Bashkir horse is one of the old local breeds of Russia. The aim
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OCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and Korean

Pigment Cell Research, 2005
SummaryOculocutaneous albinism type 4 (OCA4) was identified as a rare form of human OCA among a group of autosomal recessive hypopigmentary disorders. Little is known about the prevailing distribution of patients of OCA4 with mutations of the MATP gene, although one Turkish, five German, one Korean, and 18 Japanese patients have been reported so far ...
Katsuhiko, Inagaki, Tamio, Suzuki, Shiro, Ito, Noriyuki, Suzuki, Kazuyoshi, Fukai, Toshiyuki, Horiuchi, Toshihiko, Tanaka, Etsuko, Manabe, Yasushi, Tomita   +8 more
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Distribution of the F374 Allele of the SLC45A2 (MATP) Gene and Founder‐Haplotype Analysis

Annals of Human Genetics, 2006
SummaryThe membrane‐associated transporter protein (MATP) plays an important role in melanin synthesis. The L374F mutation in the SLC45A2 gene encoding MATP has been suggested to be associated with skin colour in major human populations. In this study more detailed distribution of the F374 allele was investigated in 1649 unrelated subjects from 13 ...
I, Yuasa, K, Umetsu, S, Harihara, A, Kido, A, Miyoshi, N, Saitou, B, Dashnyam, F, Jin, G, Lucotte, P K, Chattopadhyay, L, Henke, J, Henke   +11 more
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Polymorphisms of the MATP/SLC45A2 gene and susceptibility to melanoma in the French population

Journal of Clinical Oncology, 2008
11040 Background: Loss-of-function variants in the melanocortin 1 receptor gene (MC1R) are low penetrant melanoma predisposing alleles. Methods: A cohort comprising 1,019 patients affected by melanoma (MelanCohort) and 1,466 Caucasian controls skin cancer-free were studied. Ten polymorphisms, including five functional MC1R alleles (R151C, R160W, D294H,
N. Soufir, M. Guedj, A. Bourrillon, C. Combadieres, V. Descamps, N. Dupin, P. Wolkenstein, C. Lebbe, N. Basset- Seguin, P. Saiag, B. Grandchamp   +10 more
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Evidence for biomolecular condensates of MatP in spatiotemporal regulation of the bacterial cell division cycle

ABSTRACT An increasing number of proteins involved in bacterial cell cycle events have been recently shown to undergo phase separation. The resulting biomolecular condensates play an important role in cell cycle protein function and may be involved in development of persister cells tolerant to antibiotics.
Inés, Barros-Medina, Miguel Ángel, Robles-Ramos, Marta, Sobrinos-Sanguino, Juan Román, Luque-Ortega, Carlos, Alfonso, William, Margolin, Germán, Rivas, Begoña, Monterroso, Silvia, Zorrilla   +8 more
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Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population

2008
In this study, we investigated whether variants in three key pigmentation genes-MC1R, MATP/SLC45A2, and OCA2-were involved in melanoma predisposition. A cohort comprising 1,019 melanoma patients (MelanCohort) and 1,466 Caucasian controls without skin cancers were studied.
Guedj, M., Bourillon, A., Combadières, C., Rodero, M., Dieudé, P., Dieudé, P., Descamps, V., Dupi, N., Wolkenstein, P., Aegerter, P., Lebbe, C., Basset-Seguin, N., Prum, B., Saiag P,, Grandchamp, B., Soufi, N., MelanCohort Investigators   +16 more
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Expression, purification and preliminary structural analysis ofEscherichia coliMatP in complex with thematSDNA site

Acta Crystallographica Section F: Structural Biology Communications, 2012
Johnny Lisboa, Dominique Durand
exaly  

Promoter polymorphisms in theMATP(SLC45A2) gene are associated with normal human skin color variation

Human Mutation, 2007
Joanne Voisey
exaly  

Cotton (Gossypium hirsutum) MatP6 and MatP7 Oleosin Genes

Plant Physiology, 1993
G A Galau, D W Hughes
exaly