DIABETES GENETICS
Mdb17-002	PADI4 minor haplotype as risk factor for excessive NET formation and associated wound healing disorders in diabetes mellitus
	Quote:	Clinically, patients with DM carrying the minor haplotype had the highest rates of delayed wound healing and infections. Together, these results demonstrate that PADI4 genetic variation influences neutrophil behavior and clinical outcomes. PADI4 haplotyping may provide a clinically actionable biomarker to identify patients with DM at high risk for wound healing complications and guide early preventive strategies.
	Abstract:	https://www.medrxiv.org/content/10.1101/2024.11.28.24318124v2
	Full Text:	https://www.medrxiv.org/content/10.1101/2024.11.28.24318124v2.full-text
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	Search Authors:	Sabrina Ehnert Philipp Hemmann Christoph Ihle Caren Linnemann Jonas Mck Panagiota-Georgia Anastasiou Ralf Lobmann Gunnar Blumenstock Stefan Pscherer Andreas Fritsche Heiko Baumgartner Tina Histing Mika F. Rollmann Andreas K. Nussler,
BRAIN GENETICS
Mge17-018	Duplication within 14q32.13 implicates a chimeric CLMN::SYNE3 RNA transcript in cerebellar ataxia
	Quote:	Our data suggests that ectopic expression of SYNE3 in cerebellar Purkyn#283; neurons, mediated by the CLMN promoter, leads to cerebellar atrophy and causes spinocerebellar ataxia in the SCA30 family. This is an example of Mendelian disease arising from a novel, chimeric transcript with a likely dominant negative effect. Chimeric transcripts are commonly associated with cancers, but they are not often associated with monogenic disorders. Detection of chimeric transcripts as part of structural variant analysis could increase the genetic diagnostic yield of Mendelian disorders.
	Abstract:	https://www.medrxiv.org/content/10.64898/2026.04.23.26350376v1
	Full Text:	https://www.medrxiv.org/content/10.64898/2026.04.23.26350376v1.full-text
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	Search Authors:	Thomas M Litster Robert A Wilcox Rene Carroll Alison E Gardner Nazzmer M Nazri Cheryl A Shoubridge Martin B Delatycki Katja Lohmann Marc Agzarian Rafaela Turella Divani Haloom Rafehi Liam Scott Gavin Monahan Phillipa J Lamont Catherine Ashton Nigel G Laing Gianina Ravenscroft Melanie Bahlo Eric Haan Paul J Lockhart Kathryn L Friend Mark A Corbett Jozef Gecz,
CANCER GENETICS
Mhe17-002	A prognostic signature based on ectopic reactivation of 8 tissue-specific genes in Diffuse Large B Cell Lymphoma
	Quote:	We then developed a multiplex RT-MLPseq based assay, compatible with formalin-fixed paraffin-embedded (FFPE) samples and transferable into routine clinical practice, enabling analysis of expression of these eight genes and validated their prognosis impact in an independent real-life cohort. This signature could be integrated with current prognostic indices and molecular classifications to improve patient stratification and guide treatment selection toward a personalized theragnostic approach, thereby enhancing management of non-responder patients.
	Abstract:	https://www.medrxiv.org/content/10.64898/2026.04.23.26351580v1
	Full Text:	https://www.medrxiv.org/content/10.64898/2026.04.23.26351580v1.full-text
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	Search Authors:	Emilie Montaut Vinciane Rainville Patricia Betton-Fraisse William Merre Syrine Khedimallah Jrme Govin Sophie Rousseaux Saadi Khochbin Fabrice Jardin Phillipe Ruminy Ekaterina Bourova-Flin Anouk Emadali Sylvain Carras,
BRAIN CANCER GENETICS
Mpt17-004	Whole-Genome Long-Read Sequencing for Rapid Comprehensive Molecular Diagnostics of Brain Tumors
	Quote:	Conclusions Nanopore WGS delivers comprehensive genetic and epigenetic results with a fast turn-around compared to standard methods. This enables efficient, accurate, and scalable molecular diagnostics of CNS tumors using a single platform. Its broad applicability supports its implementation in routine clinical practice and may be extended to other cancer types requiring complex genomic profiling.
	Abstract:	https://www.medrxiv.org/content/10.64898/2026.04.23.26351563v1
	Full Text:	https://www.medrxiv.org/content/10.64898/2026.04.23.26351563v1.full-text
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	Search Authors:	Skarphinn Halldorsson Richard Mark Nagymihaly Christian Domilongo Bope Marius Lund-Iversen Pitt Niehusmann Thomas Lien-Dahl Jens Pahnke Thomas Brning Geir Kongelf Areeba Patel Felix Sahm Philipp Euskirchen Henning Leske Einar Osland Vik-Mo,

Javilk's Research Links for Week 17
Updated 05/02/2026-01:34:02 AM
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Mdb17-002

PADI4 minor haplotype as risk factor for excessive NET formation and associated wound healing disorders in diabetes mellitus

Mge17-018

Duplication within 14q32.13 implicates a chimeric CLMN::SYNE3 RNA transcript in cerebellar ataxia

Mhe17-002

A prognostic signature based on ectopic reactivation of 8 tissue-specific genes in Diffuse Large B Cell Lymphoma

Mpt17-004

Whole-Genome Long-Read Sequencing for Rapid Comprehensive Molecular Diagnostics of Brain Tumors