Publications:

---

The building blocks of caveolae revealed: caveolins finally take center stage.

Biochemical Society Transactions

Kenworthy, Anne K AK

Publication Date: 2023-04-21

Variant appearance in text: CAV1: 474delA

PubMed Link: 37082988

Variant Present in the following documents:

• BST-51-855.pdf

View BVdb publication page

---

Caveolae Mechanotransduction at the Interface between Cytoskeleton and Extracellular Matrix.

Cells

Sotodosos-Alonso, Laura L; Pulgarín-Alfaro, Marta M; Del Pozo, Miguel A MA

Publication Date: 2023-03-20

Variant appearance in text: CAV1: 474delA

PubMed Link: 36980283

Variant Present in the following documents:

• cells-12-00942.pdf

View BVdb publication page

---

Caveolin-1 rs1997623 variant and adult metabolic syndrome-Assessing the association in three ethnic cohorts of Arabs, South Asians and South East Asians.

Frontiers In Genetics

Al Madhoun, Ashraf A; Hebbar, Prashantha P; Nizam, Rasheeba R; Haddad, Dania D; Melhem, Motasem M; Abu-Farha, Mohamed M; Thanaraj, Thangavel Alphonse TA; Al-Mulla, Fahd F

Publication Date: 2022

Variant appearance in text: CAV1: 474delA

PubMed Link: 36338969

Variant Present in the following documents:

• Main text
• fgene-13-1034892.pdf

View BVdb publication page

---

Caveolin-1 associated with severe (pediatric-onset) presentation of pulmonary arterial hypertension.

Pulmonary Circulation

Farrell, Rachel R; Colglazier, Elizabeth E; Parker, Claire C; Stevens, Leah L; Austin, Eric D ED; Fineman, Jeffrey R JR

Publication Date: 2022-07

Variant appearance in text: CAV1: 474delA; Leu159Serfs*22

PubMed Link: 35864912

Variant Present in the following documents:

• Main text
• PUL2-12-e12100.pdf

View BVdb publication page

---

Type I interferon activation and endothelial dysfunction in caveolin-1 insufficiency-associated pulmonary arterial hypertension.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Gairhe, Salina S; Awad, Keytam S KS; Dougherty, Edward J EJ; Ferreyra, Gabriela A GA; Wang, Shuibang S; Yu, Zu-Xi ZX; Takeda, Kazuyo K; Demirkale, Cumhur Y CY; Torabi-Parizi, Parizad P; Austin, Eric D ED; Elinoff, Jason M JM; Danner, Robert L RL

Publication Date: 2021-03-16

Variant appearance in text: CAV1: 474delA

PubMed Link: 33836561

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The role of genomics and genetics in pulmonary arterial hypertension.

Global Cardiology Science & Practice

Swietlik, Emilia M EM; Gräf, Stefan S; Morrell, Nicholas W NW

Publication Date: 2020-04-30

Variant appearance in text: CAV1: 474delA

PubMed Link: 33150157

Variant Present in the following documents:

• Main text
• gcsp-2020-1-e202013.pdf

View BVdb publication page

---

Expression of a Human Caveolin-1 Mutation in Mice Drives Inflammatory and Metabolic Defect-Associated Pulmonary Arterial Hypertension.

Frontiers In Medicine

Rathinasabapathy, Anandharajan A; Copeland, Courtney C; Crabtree, Amber A; Carrier, Erica J EJ; Moore, Christy C; Shay, Sheila S; Gladson, Santhi S; Austin, Eric D ED; Kenworthy, Anne K AK; Loyd, James E JE; Hemnes, Anna R AR; West, James D JD

Publication Date: 2020

Variant appearance in text: CAV1: 474delA

PubMed Link: 33015095

Variant Present in the following documents:

• fmed-07-00540.pdf

View BVdb publication page

---

A disease-associated frameshift mutation in caveolin-1 disrupts caveolae formation and function through introduction of a de novo ER retention signal.

Molecular Biology Of The Cell

Copeland, Courtney A CA; Han, Bing B; Tiwari, Ajit A; Austin, Eric D ED; Loyd, James E JE; West, James D JD; Kenworthy, Anne K AK

Publication Date: 2017-11-01

Variant appearance in text: CAV1: 474delA

PubMed Link: 28904206

Variant Present in the following documents:

• 3095.pdf

View BVdb publication page

---

A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics

Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V

Publication Date: 2017-08-02

Variant appearance in text: CAV1: 474delA

PubMed Link: 28768485

Variant Present in the following documents:

• 12881_2017_440_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Shared gene expression patterns in mesenchymal progenitors derived from lung and epidermis in pulmonary arterial hypertension: identifying key pathways in pulmonary vascular disease.

Pulmonary Circulation

Gaskill, Christa C; Marriott, Shennea S; Pratap, Sidd S; Menon, Swapna S; Hedges, Lora K LK; Fessel, Joshua P JP; Kropski, Jonathan A JA; Ames, DeWayne D; Wheeler, Lisa L; Loyd, James E JE; Hemnes, Anna R AR; Roop, Dennis R DR; Klemm, Dwight J DJ; Austin, Eric D ED; Majka, Susan M SM

Publication Date: 2016-12

Variant appearance in text: CAV1: 474delA

PubMed Link: 28090290

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.

Traffic (Copenhagen, Denmark)

Han, Bing B; Copeland, Courtney A CA; Kawano, Yumeko Y; Rosenzweig, Erika Berman EB; Austin, Eric D ED; Shahmirzadi, Layla L; Tang, Sha S; Raghunathan, Krishnan K; Chung, Wendy K WK; Kenworthy, Anne K AK

Publication Date: 2016-12

Variant appearance in text: CAV1: 474delA

PubMed Link: 27717241

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Assembly and Turnover of Caveolae: What Do We Really Know?

Frontiers In Cell And Developmental Biology

Han, Bing B; Copeland, Courtney A CA; Tiwari, Ajit A; Kenworthy, Anne K AK

Publication Date: 2016

Variant appearance in text: CAV1: 474delA

PubMed Link: 27446919

Variant Present in the following documents:

• fcell-04-00068.pdf

View BVdb publication page

---

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: CAV1: 474delA; L159Sfs*22

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

American Journal Of Medical Genetics. Part A

Garg, Abhimanyu A; Kircher, Martin M; Del Campo, Miguel M; Amato, R Stephen RS; Agarwal, Anil K AK; ,

Publication Date: 2015-08

Variant appearance in text: CAV1: 474delA; L159Sfs*22

PubMed Link: 25898808

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The genetics of pulmonary arterial hypertension.

Circulation Research

Austin, Eric D ED; Loyd, James E JE

Publication Date: 2014-06-20

Variant appearance in text: CAV1: 474delA

PubMed Link: 24951767

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The molecular genetics and cellular mechanisms underlying pulmonary arterial hypertension.

Scientifica

Machado, Rajiv D RD

Publication Date: 2012

Variant appearance in text: CAV1: 474delA

PubMed Link: 24278664

Variant Present in the following documents:

• Main text
• SCIENTIFICA2012-106576.pdf

View BVdb publication page

---

Heritable forms of pulmonary arterial hypertension.

Seminars In Respiratory And Critical Care Medicine

Austin, Eric D ED; Loyd, James E JE

Publication Date: 2013-10

Variant appearance in text: CAV1: 474delA

PubMed Link: 24037626

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole exome sequencing to identify a novel gene (caveolin-1) associated with human pulmonary arterial hypertension.

Circulation. Cardiovascular Genetics

Austin, Eric D ED; Ma, Lijiang L; LeDuc, Charles C; Berman Rosenzweig, Erika E; Borczuk, Alain A; Phillips, John A JA; Palomero, Teresa T; Sumazin, Pavel P; Kim, Hyunjae R HR; Talati, Megha H MH; West, James J; Loyd, James E JE; Chung, Wendy K WK

Publication Date: 2012-06

Variant appearance in text: CAV1: 474delA

PubMed Link: 22474227

Variant Present in the following documents:

• Main text

View BVdb publication page

---