Evidence map›Paper›PMID 38947032›Full record

ArticleResearch square2024

Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.

Cortney Gensemer, Tyler Beck, Lilong Guo, Taylor Petrucci, Jordan Morningstar, Isabelle Kornblau, Kathryn Byerly, Rachel Biggs, Amy Weintraub, Kelsey Moore and 46 more

Abstract readPreprint
In one paragraph

Article in Research square, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

56 authors.

Cortney Gensemer
Tyler Beck
Lilong Guo
Taylor Petrucci
Jordan Morningstar
Isabelle Kornblau
Kathryn Byerly
Rachel Biggs
Amy Weintraub
Kelsey Moore
Natalie Koren
Victoria Daylor
Christina Hastings
Emily Oberlies
Ella R Zientara
Elsie Devey
Sarah Dooley
Kristina Stayer
Roman Fenner
Katherine Singleton
Sofia Luzbetak
Deatra Bear
Rebecca Byrd
Julianna Weninger
Erika Bistran
Gyda Beeson
Joshua Kerns
Molly Griggs
Charlotte Griggs
Madalyn Osterhaus
Emily Fleck
Jillian Schnaudigel
Shaina Butler
Sydney Severance
Wiley Kendall
Joe R Delaney
Daniel P Judge
Peng Chen
Hai Yao
Jan Guz
Alexander Awgulewitsch
Steven A Kautz
Rupak Mukherjee
Robert Price
Fraser Henderson
Steven Shapiro
Clair A Francomano
Jason C Kovacic
Mark Lavallee
Sunil Patel
Takiy-Eddine Berrandou
Susan A Slaugenhaupt
David Milan
Amy R Kontorovich
Nabila Bouatia-Naji
Russell A NorrisMedical University of South Carolina.ORCID 0000-0001-8462-5726

Funding

Conduits: Mount Sinai Health System Translational Science HubUL1TR004419 · NCATS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Rosalind J Wright · 2022 to 2026
$46.4M
Tissue Structural and Neural Remodeling in Human Sacroiliac JointP20GM121342 · NIGMS · CLEMSON UNIVERSITY · PI Hai Yao · 2018 to 2026
$24.7M
Targeted Nano-therapeutics for Neural RegenerationP20GM103444 · NIGMS · CLEMSON UNIVERSITY · PI NORRIS, RUSSELL · 2012 to 2018
$14.9M
TRAINING TO IMPROVE CARDIOVASCULAR THERAPIEST32HL007260 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI MENICK, DONALD R. · 1985 to 2021
$11.1M
Integrating craniofacial morphology, oral function, temporomandibular biomechanics and mechanobiology to determine sex-specific TMJ pathophysiology in humansR01DE021134 · NIDCR · CLEMSON UNIVERSITY · PI YAO, HAI · 2012 to 2025
$4.7M
Cilia and Valvular Heart DiseaseR01HL131546 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2016 to 2025
$4.4M
Cellular, Biochemical and Molecular Sciences Training Program: Developing the skills and expertise needed for a changing biomedical landscapeT32GM132055 · NIGMS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI Amy D Bradshaw, John P O'Bryan · 2019 to 2026
$3.9M
ATTRACT: Assessment of Temporomandibular JoinT MoRphology, Mechanics, And Mechanobiology in Class II and III Target and Surgical PhenotypesU01DE031512 · NIDCR · CLEMSON UNIVERSITY · PI Hai Yao · 2022 to 2026
$3.0M
EXTRAMURAL RESEARCH FACILITIES CONSTRUCTIONC06RR018823 · NCRR · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI RAYMOND, JOHN R · 2003 to 2003
$2.9M
Dzip1 and Mitral Valve ProlapseR01HL149696 · NHLBI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI NORRIS, RUSSELL · 2020 to 2023
$2.0M
Copy Number Alterations in Low Mutation CancerR00CA207729 · NCI · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI DELANEY, JOE R · 2019 to 2021
$730k
Copy Number Alterations in Low Mutation CancerK99CA207729 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI DELANEY, JOE R · 2017 to 2018
$230k
NCATS NIH HHS UL1 TR004419NCI NIH HHS K99 CA207729NCI NIH HHS R00 CA207729NCRR NIH HHS C06 RR018823NHLBI NIH HHS F31 HL158243NHLBI NIH HHS F31 HL167482NHLBI NIH HHS R01 HL131546NHLBI NIH HHS R01 HL149696NHLBI NIH HHS T32 HL007260NIAID NIH HHS F32 AI181339NIDCR NIH HHS R01 DE021134NIDCR NIH HHS U01 DE031512NIGMS NIH HHS P20 GM103444NIGMS NIH HHS P20 GM121342NIGMS NIH HHS T32 GM132055
6 · The paper itself

Abstract

Hypermobile Ehlers-Danlos syndrome (hEDS) is a common heritable connective tissue disorder that lacks a known genetic etiology. To identify genetic contributions to hEDS, whole exome sequencing was performed on families and a cohort of sporadic hEDS patients. A missense variant in

Indexed as

Connective tissueshEDSHypermobile Ehlers Danlos Syndrome

Identifiers

PMID38947032
PMCPMC11213194

What OpenQuestion holds

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Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.