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286534 occurrences (No.87 in the rank) during 5 years in the PubMed. [no cache] 500 found

306) JOAG associated with CYP1B1 mutations occurs at a high rate in the Saudi population.

--- ABSTRACT ---

PMID:24099281 DOI:10.3109/13816810.2013.841961

2015 Ophthalmic genetics

* CYP1B1 Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia.

- To describe the genotype and phenotype in 14 unrelated Saudis with juvenile open angle glaucoma (JOAG). Detailed clinical examination was carried out and we sequenced cytochrome P450, family 1, subfamily B (CYP1B1), Myocilin (MYOC) and latent-transforming growth factor beta-binding protein 2 (LTBP2) genes. Twelve (85.7%) patients had apparent sporadic inheritance and 2 (14.3%) presented with a family history of glaucoma. Overall, 12 patients (85.7%) had CYP1B1 mutation. Nine patients had CYP1B1 mutations in a homozygous status. Eight of these had homozygous p.G61E mutation and one had a silent (no amino acid change) sequence change. Two patients had p.G61E mutation in a compound heterozygous status with another CYP1B1 mutation (p.L432V). Two patients had p.G61E in a heterozygous status with no other mutation, while one patient had no mutation(s). None of the patients had any mutation(s) in the MYOC or LTBP2 genes. JOAG associated with CYP1B1 mutations occurs at a high rate in the Saudi population. A specific genotype-phenotype relationship was not demonstrated.

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[frequency of next (right) word to rate]

(1)163 of	(9)7 to	(17)3 were	(25)2 may
(2)56 was	(10)6 at	(18)3 without	(26)2 or
(3)44 and	(11)4 as	(19)2 (HR)	(27)2 per
(4)34 null	(12)4 from	(20)2 =	(28)2 product
(5)14 in	(13)4 variability	(21)2 by	(29)2 step
(6)9 is	(14)3 after	(22)2 compared	(30)2 that
(7)8 for	(15)3 coding	(23)2 due	(31)2 under
(8)7 than	(16)3 ranged	(24)2 enzyme	(32)2 which

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--- WordNet output for rate --- =>価格を評定する, 割合, 率, 歩合, 料金, 値段, 相場, 速度, 度合, 人を〜を思う, みなす, 価値がある, 人を〜とみなす, 科金, 評価する Overview of noun rate The noun rate has 4 senses (first 3 from tagged texts) 1. (68) rate -- (a magnitude or frequency relative to a time unit; "they traveled at a rate of 55 miles per hour"; "the rate of change was faster than expected") 2. (39) rate, charge per unit -- (amount of a charge or payment relative to some basis; "a 10-minute phone call at that rate would cost $5") 3. (1) pace, rate -- (the relative speed of progress or change; "he lived at a fast pace"; "he works at a great rate"; "the pace of events accelerated") 4. rate -- (a quantity or amount or measure considered as a proportion of another quantity or amount or measure; "the literacy rate"; "the retention rate"; "the dropout rate") Overview of verb rate The verb rate has 3 senses (first 3 from tagged texts) 1. (9) rate, rank, range, order, grade, place -- (assign a rank or rating to; "how would you rank these students?"; "The restaurant is rated highly in the food guide") 2. (2) rate -- (be worthy of or have a certain rating; "This bond rates highly") 3. (1) rate, value -- (estimate the value of; "How would you rate his chances to become President?"; "Gold was rated highly among the Romans") --- WordNet end ---