Publications:

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Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Frontiers In Cardiovascular Medicine

Xia, Xiao-Dan XD; Peng, Zhong-Sheng ZS; Gu, Hong-Mei HM; Wang, Maggie M; Wang, Gui-Qing GQ; Zhang, Da-Wei DW

Publication Date: 2021

Variant appearance in text: PMM2: P69S

PubMed Link: 34782856

Variant Present in the following documents:

• Main text
• fcvm-08-764038.pdf

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Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Orphanet Journal Of Rare Diseases

Starosta, Rodrigo Tzovenos RT; Boyer, Suzanne S; Tahata, Shawn S; Raymond, Kimiyo K; Lee, Hee Eun HE; Wolfe, Lynne A LA; Lam, Christina C; Edmondson, Andrew C AC; Schwartz, Ida Vanessa Doederlein IVD; Morava, Eva E

Publication Date: 2021-01-07

Variant appearance in text: PMM2: Pro69Ser

PubMed Link: 33413482

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1630.pdf

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New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.

Journal Of Clinical Medicine

Francisco, Rita R; Pascoal, Carlota C; Marques-da-Silva, Dorinda D; Brasil, Sandra S; Pimentel-Santos, Fernando M FM; Altassan, Ruqaiah R; Jaeken, Jaak J; Grosso, Ana Rita AR; Dos Reis Ferreira, Vanessa V; Videira, Paula A PA

Publication Date: 2020-07-03

Variant appearance in text: PMM2: P69S

PubMed Link: 32635232

Variant Present in the following documents:

• Main text
• jcm-09-02092.pdf
• jcm-09-02092-s001.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: PMM2: 205C>T; Pro69Ser

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PMM2: P69S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

American Journal Of Human Genetics

Grünewald, S S; Schollen, E E; Van Schaftingen, E E; Jaeken, J J; Matthijs, G G

Publication Date: 2001-02

Variant appearance in text: PMM2: P69S

PubMed Link: 11156536

Variant Present in the following documents:

• Main text

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