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Article ; Online: Kit Ligand and Kit receptor tyrosine kinase sustain synaptic inhibition of Purkinje cells.

Zaman, Tariq / Vogt, Daniel / Prokop, Jeremy / Alsabia, Qusai Abdulkhaliq / Simms, Gabriel / Stafford, April / Luikart, Bryan W / Williams, Michael R

eLife

2024 Volume 12

Abstract: The cell-type-specific expression of ligand/receptor and cell-adhesion molecules is a fundamental mechanism through which neurons regulate connectivity. Here, we determine a functional relevance of the long-established mutually exclusive expression of ... ...

Abstract	The cell-type-specific expression of ligand/receptor and cell-adhesion molecules is a fundamental mechanism through which neurons regulate connectivity. Here, we determine a functional relevance of the long-established mutually exclusive expression of the receptor tyrosine kinase Kit and the trans-membrane protein Kit Ligand by discrete populations of neurons in the mammalian brain. Kit is enriched in molecular layer interneurons (MLIs) of the cerebellar cortex (i.e., stellate and basket cells), while cerebellar Kit Ligand is selectively expressed by a target of their inhibition, Purkinje cells (PCs). By in vivo genetic manipulation spanning embryonic development through adulthood, we demonstrate that PC Kit Ligand and MLI Kit are required for, and capable of driving changes in, the inhibition of PCs. Collectively, these works in mice demonstrate that the Kit Ligand/Kit receptor dyad sustains mammalian central synapse function and suggest a rationale for the affiliation of Kit mutation with neurodevelopmental disorders.
MeSH term(s)	Mice ; Animals ; Purkinje Cells/physiology ; Stem Cell Factor/metabolism ; Cerebellum/physiology ; Cerebellar Cortex/metabolism ; Interneurons/physiology ; Receptor Protein-Tyrosine Kinases/metabolism ; Mammals/metabolism
Chemical Substances	Stem Cell Factor ; Receptor Protein-Tyrosine Kinases (EC 2.7.10.1)
Language	English
Publishing date	2024-03-27
Publishing country	England
Document type	Journal Article
ZDB-ID	2687154-3
ISSN	2050-084X ; 2050-084X
ISSN (online)	2050-084X
ISSN	2050-084X
DOI	10.7554/eLife.89792
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Introduction to Personalized Medicine in Pediatrics.

Bupp, Caleb P / English, B Keith / Rajasekaran, Surender / Prokop, Jeremy W

Pediatric annals

2022 Volume 51, Issue 10, Page(s) e381–e386

Abstract: Exciting new developments in biomedical and computational sciences provide an extraordinary and unparalleled opportunity to compile, connect, and analyze multiple types of "big data," driving the development of personalized medicine. These insights must ... ...

Abstract	Exciting new developments in biomedical and computational sciences provide an extraordinary and unparalleled opportunity to compile, connect, and analyze multiple types of "big data," driving the development of personalized medicine. These insights must begin in early life (ie, pregnancy, neonatal, and infancy) and focus on early prevention, diagnosis, and intervention-areas of medicine where pediatricians are poised to lead the way to a personalized medicine future. The rapid growth of genomics (including pharmacogenomics), transcriptomics, and related "omics" has revolutionized the diagnosis of rare monogenic disorders. It is now clarifying the pathogenesis of complex conditions ranging from autism spectrum disorder to asthma. Collaborations between clinicians and basic scientists integrating multiomics approaches in evaluating children with severe illness are transforming the fields of perinatal, neonatal, and pediatric critical care medicine. Improvements in rapid diagnostic and prognostic information suggest that pediatric personalized medicine is under way and has an exciting future.
MeSH term(s)	Autism Spectrum Disorder ; Child ; Female ; Genomics ; Humans ; Infant, Newborn ; Pediatrics ; Pharmacogenetics ; Precision Medicine ; Pregnancy
Language	English
Publishing date	2022-10-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	195430-1
ISSN	1938-2359 ; 0090-4481
ISSN (online)	1938-2359
ISSN	0090-4481
DOI	10.3928/19382359-20220803-03
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: Structure-Function of the Human WAC Protein in GABAergic Neurons: Towards an Understanding of Autosomal Dominant DeSanto-Shinawi Syndrome.

Rudolph, Hannah C / Stafford, April M / Hwang, Hye-Eun / Kim, Cheol-Hee / Prokop, Jeremy W / Vogt, Daniel

Biology

2023 Volume 12, Issue 4

Abstract: Dysfunction of the WW domain-containing adaptor with coiled-coil, ...

Abstract	Dysfunction of the WW domain-containing adaptor with coiled-coil,
Language	English
Publishing date	2023-04-12
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2661517-4
ISSN	2079-7737
ISSN	2079-7737
DOI	10.3390/biology12040589
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Perinatal Manifestations of

Ngo, Julie / Prokop, Jeremy W / Umfleet, Jason / Seaver, Laurie H

Child neurology open

2021 Volume 8, Page(s) 2329048X211019173

Abstract: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a progressive disorder associated with deficiency of mitochondrial aspartyl-tRNA synthetase, a homodimer encoded by the ... ...

Abstract	Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a progressive disorder associated with deficiency of mitochondrial aspartyl-tRNA synthetase, a homodimer encoded by the gene
Language	English
Publishing date	2021-05-25
Publishing country	United States
Document type	Case Reports
ZDB-ID	2785453-X
ISSN	2329-048X ; 2329-048X
ISSN (online)	2329-048X
ISSN	2329-048X
DOI	10.1177/2329048X211019173
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.

Cook, Taylor W / Wilstermann, Amy M / Mitchell, Jackson T / Arnold, Nicholas E / Rajasekaran, Surender / Bupp, Caleb P / Prokop, Jeremy W

Biomolecules

2023 Volume 13, Issue 2

Abstract: Insulin is amongst the human genome's most well-studied genes/proteins due to its connection to metabolic health. Within this article, we review literature and data to build a knowledge base of Insulin ( ...

Abstract	Insulin is amongst the human genome's most well-studied genes/proteins due to its connection to metabolic health. Within this article, we review literature and data to build a knowledge base of Insulin (
MeSH term(s)	Humans ; Precision Medicine ; Proinsulin ; Diabetes Mellitus, Type 1/genetics ; Pancreas ; Genomics
Chemical Substances	Proinsulin (9035-68-1)
Language	English
Publishing date	2023-01-30
Publishing country	Switzerland
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2701262-1
ISSN	2218-273X ; 2218-273X
ISSN (online)	2218-273X
ISSN	2218-273X
DOI	10.3390/biom13020257
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.

Aniol, Claudia V / Prokop, Jeremy W / Rajasekaran, Surender / Pageau, Spencer / Elizer, Sydney K / VanSickle, Elizabeth A / Bupp, Caleb P

BMC pediatrics

2023 Volume 23, Issue 1, Page(s) 1

Abstract: Background: Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. ... ...

Abstract	Background: Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. Here, we report a case of dilated coronary arteries in a pediatric patient with a RIT1 variant to add to the body of literature around this rare presentation of Noonan Syndrome. CASE PRESENTATION: A 2-month-old female was admitted due to increasing coronary artery dilation and elevated inflammatory markers. Rapid whole genome sequencing was performed and a likely pathogenic RIT1 variant was detected. This gene has been associated with a rare form of Noonan Syndrome and associated heart defects. Diagnosis of the RIT1 variant also gave reassurance about the patient's cardiac findings and allowed for more timely discharge as she was discharged to home the following day. CONCLUSIONS: This case highlights the importance of the association between dilated coronary arteries and Noonan syndrome and that careful cardiac screening should be advised in patients diagnosed with Noonan syndrome. In addition, this case emphasizes the importance of involvement of other subspecialities to determine a diagnosis. Through multidisciplinary medicine, the patient was able to return home in a timely manner with a diagnosis and the reassurance that despite her dilated coronary arteries and elevated inflammatory markers there was no immediate concern to her health.
MeSH term(s)	Humans ; Female ; Noonan Syndrome/complications ; Noonan Syndrome/diagnosis ; Noonan Syndrome/genetics ; Coronary Vessels/pathology ; ras Proteins/metabolism ; Heart Defects, Congenital ; Phenotype ; Mutation
Chemical Substances	ras Proteins (EC 3.6.5.2) ; RIT1 protein, human (EC 3.6.1.-)
Language	English
Publishing date	2023-01-02
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2041342-7
ISSN	1471-2431 ; 1471-2431
ISSN (online)	1471-2431
ISSN	1471-2431
DOI	10.1186/s12887-022-03818-w
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care.

Henderson, Marian L / Zieba, Jacob K / Li, Xiaopeng / Campbell, Daniel B / Williams, Michael R / Vogt, Daniel L / Bupp, Caleb P / Edgerly, Yvonne M / Rajasekaran, Surender / Hartog, Nicholas L / Prokop, Jeremy W / Krueger, Jena M

Biotech (Basel (Switzerland))

2024 Volume 13, Issue 1

Abstract: Gene therapy holds promise as a life-changing option for individuals with genetic variants that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA), cerebral adrenoleukodystrophy, β-Thalassemia, hemophilia A/B, retinal ... ...

Abstract	Gene therapy holds promise as a life-changing option for individuals with genetic variants that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA), cerebral adrenoleukodystrophy, β-Thalassemia, hemophilia A/B, retinal dystrophy, and Duchenne Muscular Dystrophy have generated buzz around the ability to change the course of genetic syndromes. However, this excitement risks over-expansion into areas of genetic disease that may not fit the current state of gene therapy. While in situ (targeted to an area) and ex vivo (removal of cells, delivery, and administration of cells) approaches show promise, they have a limited target ability. Broader in vivo gene therapy trials have shown various continued challenges, including immune response, use of immune suppressants correlating to secondary infections, unknown outcomes of overexpression, and challenges in driving tissue-specific corrections. Viral delivery systems can be associated with adverse outcomes such as hepatotoxicity and lethality if uncontrolled. In some cases, these risks are far outweighed by the potentially lethal syndromes for which these systems are being developed. Therefore, it is critical to evaluate the field of genetic diseases to perform cost-benefit analyses for gene therapy. In this work, we present the current state while setting forth tools and resources to guide informed directions to avoid foreseeable issues in gene therapy that could prevent the field from continued success.
Language	English
Publishing date	2024-01-03
Publishing country	Switzerland
Document type	Journal Article ; Review
ISSN	2673-6284
ISSN (online)	2673-6284
DOI	10.3390/biotech13010001
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Evolution of the phenotype of craniosynostosis with dental anomalies syndrome and report of IL11RA variant population frequencies in a Crouzon-like autosomal recessive syndrome.

Korakavi, Nisha / Prokop, Jeremy W / Seaver, Laurie H

American journal of medical genetics. Part A

2019 Volume 179, Issue 4, Page(s) 668–673

Abstract: In 2011, biallelic loss-of-function variants in the interleukin receptor 11 alpha gene IL11RA were found to be associated with a Crouzon-like craniosynostosis syndrome with associated dental anomalies (CRSDA). Since then, a total of 41 similar patients ... ...

Abstract	In 2011, biallelic loss-of-function variants in the interleukin receptor 11 alpha gene IL11RA were found to be associated with a Crouzon-like craniosynostosis syndrome with associated dental anomalies (CRSDA). Since then, a total of 41 similar patients have been reported with IL11RA variants. We report two adult brothers diagnosed with Crouzon syndrome as children, in which the clinical diagnosis of CRSDA was made on reevaluation. Laboratory testing detected biallelic IL11RA variants, c.916_924dup (p.Thr306_Ser308dup) and c.781C > T (p.Arg261Cys), both of which have now been reported in other families. Protein modeling and conservation analysis show that these two mutation sites cluster together near a WSXWS motif that likely plays a significant role in regulating IL11RA protein function. Population analysis from gnomAD shows that Non-Finnish Europeans (similar to ethnicity of this family), have an allele frequency for p.Thr306_Ser308dup of 0.014% and p.Arg261Cys of 0.008%. We found other ethnicities have functional IL11RA missense variants at higher frequencies. With this report, we provide a summary of the clinical findings including details of middle ear anomalies associated with conductive hearing loss. We also provide data supporting the populations at risk for this condition to increase recognition and diagnosis of this rare autosomal recessive craniosynostosis syndrome.
MeSH term(s)	Adult ; Craniosynostoses/complications ; Craniosynostoses/genetics ; Craniosynostoses/pathology ; Gene Frequency ; Genes, Recessive ; Humans ; Interleukin-11 Receptor alpha Subunit/chemistry ; Interleukin-11 Receptor alpha Subunit/genetics ; Interleukin-11 Receptor alpha Subunit/metabolism ; Male ; Mutation ; Phenotype ; Prognosis ; Tooth Abnormalities/complications ; Tooth Abnormalities/genetics ; Tooth Abnormalities/pathology
Chemical Substances	IL11RA protein, human ; Interleukin-11 Receptor alpha Subunit
Language	English
Publishing date	2019-02-27
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1493479-6
ISSN	1552-4833 ; 1552-4825
ISSN (online)	1552-4833
ISSN	1552-4825
DOI	10.1002/ajmg.a.61070
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Structure-Function of the Human WAC Protein in GABAergic Neurons: Towards an Understanding of Autosomal Dominant DeSanto–Shinawi Syndrome

Rudolph, Hannah C. / Stafford, April M. / Hwang, Hye-Eun / Kim, Cheol-Hee / Prokop, Jeremy W. / Vogt, Daniel

Biology (Basel). 2023 Apr. 12, v. 12, no. 4

2023

Abstract: Dysfunction of the WW domain-containing adaptor with coiled-coil, WAC, gene underlies a rare autosomal dominant disorder, DeSanto–Shinawi syndrome (DESSH). DESSH is associated with facial dysmorphia, hypotonia, and cognitive alterations, including ... ...

Abstract	Dysfunction of the WW domain-containing adaptor with coiled-coil, WAC, gene underlies a rare autosomal dominant disorder, DeSanto–Shinawi syndrome (DESSH). DESSH is associated with facial dysmorphia, hypotonia, and cognitive alterations, including attention deficit hyperactivity disorder and autism. How the WAC protein localizes and functions in neural cells is critical to understanding its role during development. To understand the genotype–phenotype role of WAC, we developed a knowledgebase of WAC expression, evolution, human genomics, and structural/motif analysis combined with human protein domain deletions to assess how conserved domains guide cellular distribution. Then, we assessed localization in a cell type implicated in DESSH, cortical GABAergic neurons. WAC contains conserved charged amino acids, phosphorylation signals, and enriched nuclear motifs, suggesting a role in cellular signaling and gene transcription. Human DESSH variants are found within these regions. We also discovered and tested a nuclear localization domain that impacts the cellular distribution of the protein. These data provide new insights into the potential roles of this critical developmental gene, establishing a platform to assess further translational studies, including the screening of missense genetic variants in WAC. Moreover, these studies are essential for understanding the role of human WAC variants in more diverse neurological phenotypes, including autism spectrum disorder.
Keywords	autism ; cognition ; evolution ; genes ; genomics ; genotype-phenotype correlation ; humans ; phosphorylation ; protein domains ; transcription (genetics)
Language	English
Dates of publication	2023-0412
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article ; Online
ZDB-ID	2661517-4
ISSN	2079-7737
ISSN	2079-7737
DOI	10.3390/biology12040589
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: SLC6A1 G443D associated with developmental delay and epilepsy.

Devries, Seth / Mulder, Monica / Charron, Jacob G / Prokop, Jeremy W / Mark, Paul R

Cold Spring Harbor molecular case studies

2020 Volume 6, Issue 4

Abstract: ... ...

Abstract	SLC6A1
MeSH term(s)	Child, Preschool ; Developmental Disabilities/genetics ; Epilepsy/genetics ; Female ; GABA Plasma Membrane Transport Proteins/genetics ; GABA Plasma Membrane Transport Proteins/metabolism ; Genetic Predisposition to Disease/genetics ; Humans ; Intellectual Disability/genetics ; Loss of Function Mutation/genetics ; Mutation/genetics ; Phenotype ; Seizures/genetics ; Valproic Acid/pharmacology
Chemical Substances	GABA Plasma Membrane Transport Proteins ; SLC6A1 protein, human ; Valproic Acid (614OI1Z5WI)
Language	English
Publishing date	2020-08-25
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	2835759-0
ISSN	2373-2873 ; 2373-2873
ISSN (online)	2373-2873
ISSN	2373-2873
DOI	10.1101/mcs.a005371
Database	MEDical Literature Analysis and Retrieval System OnLINE

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