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Findings from Stanford University Update Understanding of Ehlers-Danlos Syndrome [Generation of Two Ipsc Lines From Vascular Ehlers-danlos Syndrome (Veds) Patients Carrying a Missense Mutation In Col3a1 Gene]

• Source: Hematology Week. September 2, 2024, 2016

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Variant , Defective piRNA Processing, and Azoospermia.

• Authors : Nagirnaja, L.; Mørup, N.; Nielsen, J. E.

Subjects: MALE infertility; MISSENSE mutation; DNA sequencingDENMARK

• Source: New England Journal of Medicine. 8/19/2021, Vol. 385 Issue 8, p707-719. 13p.

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Identification of a novel A allele with a missense mutation (c.737A>G) in a Chinese individual with a weak A phenotype.

• Authors : He, Baoren¹ (AUTHOR) ; Li, Bin¹ (AUTHOR); Liu, Jinlian¹ (AUTHOR)

Subjects: *ABO blood group system; *MISSENSE mutation; *ALLELES

• Source: Transfusion. Aug2020, Vol. 60 Issue 8, pE28-E29. 2p. 1 Chart.

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Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.

• Authors : Kuipers, Demy J.S.¹ (AUTHOR); Tufekcioglu, Zeynep² (AUTHOR); Bilgiç, Başar² (AUTHOR)

Subjects: *MISSENSE mutation; *GTPASE-activating protein; *PHENOTYPESTURKEY

• Source: Parkinsonism & Related Disorders. Sep2019, Vol. 66, p228-231. 4p.

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Identification of a novel missense mutation in A allele in a Chinese individual.

• Authors : Kong, Yujie¹; Tian, Xue¹; Liu, Zhong¹

Subjects: *MISSENSE mutation; *ANTIGENS; *ERYTHROCYTESCHINA

• Source: Transfusion. Dec2017, Vol. 57 Issue 12, p3065-3066. 2p.

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Lack of collagen [alpha]6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation

• Authors : Tang, Shaoying; Yonezawa, Tomoko; Maeda, Yukihide

• Source: PLoS ONE. April 13, 2021, Vol. 16 Issue 4, e0249909

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Lamin missense mutations-the spectrum of phenotype variability is increasing.

• Authors : Captur, Gabriella¹; Bilińska, Zofia²; Arbustini, Eloisa³

Subjects: *MISSENSE mutation; *HEART failure; *HEART diseases

• Source: European Journal of Heart Failure. Oct2018, Vol. 20 Issue 10, p1413-1416. 4p. 1 Graph.

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A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia.

• Authors : Tu, Chaofeng^1,2 (AUTHOR); Meng, Lanlan² (AUTHOR); Nie, Hongchuan² (AUTHOR)

Subjects: *MISSENSE mutation; *MALE infertility; *OLIGOSPERMIACHINA

• Source: Fertility & Sterility. Mar2020, Vol. 113 Issue 3, p561-568. 8p.

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Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.

• Authors : Drabkin, Max¹; Yogev, Yuval¹; Zeller, Lior²

Subjects: *MISSENSE mutation; *GOUT; *HYPERURICEMIA

• Source: Journal of Clinical Investigation. Dec2019, Vol. 129 Issue 12, p5163-5168. 6p.

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Analysis of copy number variations of WNT4 gene in a Chinese population with Müllerian anomalies.

• Authors : Zhu, Ying^1,2,3 (AUTHOR); Wang, Ruyi^4,5 (AUTHOR); Cheng, Yun^1,2,3 (AUTHOR)

Subjects: *CHINESE people; *MISSENSE mutation; *DNA copy number variationsCHINA

• Source: Orphanet Journal of Rare Diseases. 6/7/2021, Vol. 16 Issue 1, p1-6. 6p.

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