Peer-reviewedLicence not statedAmerican Journal of Human Genetics9 Oct 2026

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Jessica Chong
Jared Talbot
Emily Teets
Samantha Previs
Brit Martin
Kathryn Shively
Colby Marvin
Arthur Aylsworth
Reem Saadeh-Haddad
Ulrich Schatz
Francesca Inzana
Tawfeg Ben-Omran

19 more authors

Fatima Almusafri
Mariam Al-Mulla
Kati Buckingham
Tamar Harel
Hagar Mor-Shaked
Periyasamy Radhakrishnan
Katta Girisha
Shalini Nayak
Anju Shukla
Klaus Dieterich
Julien Faure
John Rendu
Yline Capri
Xenia Latypova
Deborah Nickerson
David Warshaw
Paul M.L. Janssen
Sharon Amacher
Michael Bamshad

Open at source PDF DOI Cite

If Becker Muscular Dystrophy Initially Manifests with Heart Disease and Rhabdomyolysis, Neurological Work-up Is Imperative
Josef Finsterer
Internal Medicine15 Oct 2026Peer-reviewedCC BY-NC-NDFull textMolecular biology & gene regulationJ-STAGE
Mechanisms of transcription control by distal enhancers from single-gene nanoscopy
Lingling Cheng, Chayan De, Jieru Li +2
Cell1 Oct 2026Peer-reviewedLicence not statedFull text32 citedMolecular biology & gene regulationOpenAlex
De novo structural variants in autism spectrum disorder disrupt distal regulatory interactions of neuronal genes
Ketrin Gjoni, Xingjie Ren, Amanda Everitt +2
Genome Research8 Jul 2026PreprintLicence not stated7 citedMolecular biology & gene regulationOpenAlex
A thioester-thiol exchange reaction in Salmonella Invasion acyl carrier protein transfers the 4PP-bound acyl chain to a distal cysteine
R. Prem, G. Garima, D. Sadhukhan +1
bioRxiv23 Oct 2026PreprintAll rights reservedFull textGeneral biochemistrybioRxiv
The myeloid transcription factor PU.1 acts through three distal and proximal enhancers to drive TNF induction in human alveolar macrophages
Junfeng Gao, Yapeng Li, Dianzheng Zhao +8
Journal of Biological Chemistry1 Oct 2026Peer-reviewedCC BY 4.0Molecular biology & gene regulationCrossref

Cite

BibTeX RIS

BibTeX

@article{chong2026mutations,
  title = {{Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis}},
  author = {Jessica Chong and Jared Talbot and Emily Teets and Samantha Previs and Brit Martin and Kathryn Shively and Colby Marvin and Arthur Aylsworth and Reem Saadeh-Haddad and Ulrich Schatz and Francesca Inzana and Tawfeg Ben-Omran and Fatima Almusafri and Mariam Al-Mulla and Kati Buckingham and Tamar Harel and Hagar Mor-Shaked and Periyasamy Radhakrishnan and Katta Girisha and Shalini Nayak and Anju Shukla and Klaus Dieterich and Julien Faure and John Rendu and Yline Capri and Xenia Latypova and Deborah Nickerson and David Warshaw and Paul M.L. Janssen and Sharon Amacher and Michael Bamshad},
  journal = {American Journal of Human Genetics},
  year = {2026},
  month = oct,
  doi = {10.1016/j.ajhg.2020.06.014},
  url = {https://hal.science/hal-05788955v1},
}

RIS

TY  - JOUR
TI  - Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
AU  - Jessica Chong
AU  - Jared Talbot
AU  - Emily Teets
AU  - Samantha Previs
AU  - Brit Martin
AU  - Kathryn Shively
AU  - Colby Marvin
AU  - Arthur Aylsworth
AU  - Reem Saadeh-Haddad
AU  - Ulrich Schatz
AU  - Francesca Inzana
AU  - Tawfeg Ben-Omran
AU  - Fatima Almusafri
AU  - Mariam Al-Mulla
AU  - Kati Buckingham
AU  - Tamar Harel
AU  - Hagar Mor-Shaked
AU  - Periyasamy Radhakrishnan
AU  - Katta Girisha
AU  - Shalini Nayak
AU  - Anju Shukla
AU  - Klaus Dieterich
AU  - Julien Faure
AU  - John Rendu
AU  - Yline Capri
AU  - Xenia Latypova
AU  - Deborah Nickerson
AU  - David Warshaw
AU  - Paul M.L. Janssen
AU  - Sharon Amacher
AU  - Michael Bamshad
PY  - 2026
DA  - 2026/10/09
JO  - American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2020.06.014
UR  - https://hal.science/hal-05788955v1
SN  - 0002-9297
SN  - 1537-6605
ER  -

Related

Cite