CUIMC Publications

Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss

Record Created:

Friday, August 1, 2025 - 13:42

Twumasi Aboagye, E., Adadey, S. M., Alves de Souza Rios, L., Esoh, K. K., Wonkam-Tingang, E., Xhakaza, L., De Kock, C., Schrauwen, I., Amenga-Etego, L., Lang, D., Awandare, G. A., Leal, S. M., Mowla, S., & Wonkam, A. (2025). Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss. International Journal of Molecular Sciences, 26(7), 3337. https://doi.org/10.3390/ijms26073337

Authors:

Elvis Twumasi Aboagye

Samuel Mawuli Adadey

Leonardo Alves de Souza Rios

Kevin K Esoh

Edmond Wonkam-Tingang

Lettilia Xhakaza

Carmen De Kock

Isabelle Schrauwen

Lucas Amenga-Etego

Dirk Lang

Gordon A Awandare

Suzanne M Leal

Shaheen Mowla

Ambroise Wonkam

Affiliated Authors:

Suzanne M Leal

Columbia Affiliation:

Subjects:

Cochlear Neuropathy and Hearing Loss Mechanisms (OpenAlex Topic)

Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)

Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)

Hearing Loss (MeSH)

Membrane Proteins (MeSH)

Author Keywords:

africa

consanguinity

ghana

marveld2

non-syndromic hearing loss

whole-exome sequencing

occludin

membrane proteins

protein zo1

tricellulin

membrane protein

actin filament

adolescent

article

audiography

audiology

carboxy terminal sequence

case report

cell membrane

cell structure

child

clinical article

evaluation study

genetic variation

ghanaian

hearing impairment

hek293 cell line

human

human cell

immunocytochemistry

immunofluorescence

in vitro study

male

protein binding

protein expression

protein function

protein localization

protein stability

sanger sequencing

school child

sequence alignment

stop codon

verbal communication

whole exome sequencing

adult

allele

female

frameshift mutation

genetics

pedigree

phenotype

alleles

exome sequencing

hearing loss

humans

Publication Type:

Article

Unique ID:

10.3390/ijms26073337

PMID:

40244166

DOI:

10.3390/ijms26073337

Journal:

International Journal of Molecular Sciences

Publication Date:

2025-04-17

Data Source:

PubMed

Source Link:

A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia

Record Created:

Monday, May 5, 2025 - 09:27

Andrade Azevedo de Vasconcelos, A., Kyun Oh, J., Guan, B., Torres, V. L. L., Lynch Gaete, M. I., & Lima de Carvalho, J. R. (2025). A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia. Ophthalmic Genetics, 1–5. https://doi.org/10.1080/13816810.2024.2447499

Authors:

Aurea C. Vasconcelos

Jin Kyun Oh

Bin Guan

Virgínia Laura Lucas Torres

Maria Isabel Lynch Gaete

José Ronaldo Lima de Carvalho

Affiliated Authors:

Jin Kyun Oh

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Ophthalmology

Subjects:

Frameshift Mutation (MeSH)

Connexin 43 (MeSH)

Tooth Abnormalities (MeSH)

Eye Abnormalities (MeSH)

Syndactyly (MeSH)

Craniofacial Abnormalities (MeSH)

Foot Deformities, Congenital (MeSH)

Genes, Recessive (MeSH)

Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)

Heme Oxygenase and Carbon Monoxide Research (OpenAlex Topic)

Genetic and Pathogenic Study of Plague Bacteria (OpenAlex Topic)

Author Keywords:

oculodentodigital syndrome

cataract

genetics

case report

ophthalmology

Publication Type:

Article

Unique ID:

10.1080/13816810.2024.2447499

PMID:

39833124

DOI:

10.1080/13816810.2024.2447499

Journal:

Ophthalmic Genetics

Publication Date:

2025-01-20

Data Source:

OpenAlex

Source Link:

FYN regulates aqueous humor outflow and IOP through the phosphorylation of VE-CADHERIN

Record Created:

Tuesday, February 11, 2025 - 13:55

Kizhatil, K., Clark, G. M., Sunderland, D. K., Bhandari, A., Horbal, L. J., Balasubramanian, R., & John, S. W. M. (2025). FYN regulates aqueous humor outflow and IOP through the phosphorylation of VE-CADHERIN. Nature Communications, 16(1). https://doi.org/10.1038/s41467-024-55232-8

Authors:

Krishnakumar Kizhatil

Graham Clark

Daniel K. Sunderland

Aakriti Bhandari

Logan Horbal

Revathi Balasubramanian

Simon W. M. John

Affiliated Authors:

Logan Horbal

Revathi Balasubramanian

Simon W. M. John

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Ophthalmology

Subjects:

Aqueous Humor (MeSH)

Proto-Oncogene Proteins c-fyn (MeSH)

Cadherins (MeSH)

Intraocular Pressure (MeSH)

Mice, Knockout (MeSH)

Antigens, CD (MeSH)

Global Prevalence and Treatment of Glaucoma (OpenAlex Topic)

Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)

Role of Hippo Signaling Pathway in Mechanotransduction (OpenAlex Topic)

Publication Type:

Article

Unique ID:

10.1038/s41467-024-55232-8

PMID:

39746990

DOI:

10.1038/s41467-024-55232-8

Journal:

Nature Communications

Publication Date:

2025-01-02

Data Source:

OpenAlex

Source Link:

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Record Created:

Tuesday, February 11, 2025 - 13:55

Blue, E. E., Huang, S. J., Khan, A., Golden-Grant, K., Boyd, B., Rosenthal, E. A., Gillentine, M. A., Fleming, L. R., Adams, D. R., Wolfe, L., Allworth, A., Bamshad, M. J., Caruana, N. J., Chanprasert, S., Chen, J., Dargie, N., Doherty, D., Friederich, M. W., Hisama, F. M., … Glass, I. A. (2024). Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts. Rare, 2, 100040. https://doi.org/10.1016/j.rare.2024.100040

Authors:

Elizabeth E Blue

Samuel J Huang

Alyna Khan

Katie Golden-Grant

Brenna Boyd

Elisabeth A Rosenthal

Madelyn A Gillentine

Leah R Fleming

David R Adams

Lynne Wolfe

Aimee Allworth

Michael J Bamshad

Nikeisha J Caruana

Sirisak Chanprasert

Jingheng Chen

Nitsuh Dargie

Daniel Doherty

Marisa W Friederich

Fuki M Hisama

Martha Horike-Pyne

Jessica C Lee

Tonia E Donovan

Daniella H Hock

Kathleen A Leppig

Danny E Miller

Ghayda Mirzaa

Jane Ranchalis

Wendy H Raskind

Cole R Michel

Richard Reisdorph

Ulrike Schwarze

Sam Sheppeard

Samuel Strohbehn

David A Stroud

Virginia P Sybert

Mark H Wener

Andrew B Stergachis

Christina T Lam

Gail P Jarvik

Katrina M Dipple

Johan L K Van Hove

Ian A Glass

Affiliated Authors:

Brenna Boyd

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Pediatrics

Subjects:

Mitochondrial Dynamics and Reactive Oxygen Species Regulation (OpenAlex Topic)

Metabolic Disorders and Biochemical Genetics (OpenAlex Topic)

Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)

Author Keywords:

gja8

uqcrfs1

alopecia

cataracts

mitochondrial complex iii

phenotypic spectrum

rare disease

Grants:

U01HG011744 (NIH – National Human Genome Research Institute)

U01HG007530 (NIH – National Human Genome Research Institute)

UM1HG006493 (NIH – National Human Genome Research Institute)

U01HG007942 (NIH – National Human Genome Research Institute)

U24HG011746 (NIH – National Human Genome Research Institute)

U01HG010233 (NIH – National Human Genome Research Institute)

U54NS078059 (NIH – National Institute of Neurological Disorders and Stroke)

S10OD028538 (NIH – Office of the Director, National Institutes of Health)

Publication Type:

Article

Unique ID:

10.1016/j.rare.2024.100040

PMID:

39421685

DOI:

10.1016/j.rare.2024.100040

Journal:

Rare (Amsterdam, Netherlands)

Publication Date:

2024-10-18

Data Source:

PubMed

Source Link:

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes

Record Created:

Monday, December 9, 2024 - 15:35

Wonkam, A., Adadey, S. M., Schrauwen, I., Aboagye, E. T., Wonkam-Tingang, E., Esoh, K., Popel, K., Manyisa, N., Jonas, M., deKock, C., Nembaware, V., Cornejo Sanchez, D. M., Bharadwaj, T., Nasir, A., Everard, J. L., Kadlubowska, M. K., Nouel-Saied, L. M., Acharya, A., Quaye, O., … Leal, S. M. (2022). Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes. Communications Biology, 5(1). https://doi.org/10.1038/s42003-022-03326-8

Authors:

Ambroise Wonkam

Samuel Mawuli Adadey

Isabelle Schrauwen

Elvis Twumasi Aboagye

Edmond Wonkam-Tingang

Kevin Esoh

Kalinka Popel

Noluthando Manyisa

Mario Jonas

Carmen deKock

Victoria Nembaware

Diana M. Cornejo Sanchez

Thashi Bharadwaj

Abdul Nasir

Jenna L. Everard

Magda K. Kadlubowska

Liz M. Nouel-Saied

Anushree Acharya

Osbourne Quaye

Geoffrey K. Amedofu

Gordon A. Awandare

Suzanne M. Leal

Affiliated Authors:

Isabelle Schrauwen

Diana M. Cornejo Sanchez

Thashi Bharadwaj

Jenna L. Everard

Magda K. Kadlubowska

Liz M. Nouel-Saied

Anushree Acharya

Suzanne M. Leal

Columbia Affiliation:

Subjects:

Exome (MeSH)

Hearing Loss (MeSH)

Cochlear Neuropathy and Hearing Loss Mechanisms (OpenAlex Topic)

Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)

Functions and Regulation of RNA Editing by ADARs (OpenAlex Topic)

Grants:

R01DC011651 (NIH – National Institute On Deafness and Other Communication Disorders)

R01DC003594 (NIH – National Institute On Deafness and Other Communication Disorders)

Publication Type:

Article

Unique ID:

10.1038/s42003-022-03326-8

PMID:

35440622

DOI:

10.1038/s42003-022-03326-8

Journal:

Communications Biology

Publication Date:

2022-12-01

Data Source:

Scopus

Source Link:

Ablating Lgr5-expressing prostatic stromal cells activates the ERK-mediated mechanosensory signaling and disrupts prostate tissue homeostasis

Record Created:

Thursday, September 12, 2024 - 09:49

Wei, X., Zhang, L., Zhang, Y., Cooper, C., Brewer, C., Tsai, C.-F., Wang, Y.-T., Glaz, M., Wessells, H. B., Que, J., Titus, M. A., Cirulli, V., Glaser, A., Liu, T., Reder, N. P., Creighton, C. J., & Xin, L. (2022). Ablating Lgr5-expressing prostatic stromal cells activates the ERK-mediated mechanosensory signaling and disrupts prostate tissue homeostasis. Cell Reports, 40(10), 111313. https://doi.org/10.1016/j.celrep.2022.111313

Authors:

Xing Wei

Li Zhang

Yiqun Zhang

Cody Cooper

Chris Brewer

Chia‐Feng Tsai

Yi‐Ting Wang

Micah S. Glaz

Hunter Wessells

Jianwen Que

Mark Titus

V. Cirulli

Adam K. Glaser

Tao Liu

Nicholas P. Reder

Chad J. Creighton

Li Xin

Affiliated Authors:

Jianwen Que

Columbia Affiliation:

Vagelos College of Physicians and Surgeons
- Department of Medicine
  Division of Digestive and Liver Diseases

Subjects:

Prostate (MeSH)

Stromal Cells (MeSH)

Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)

Standardisation of Lower Urinary Tract Function (OpenAlex Topic)

Prostate Cancer Research and Treatment (OpenAlex Topic)

Author Keywords:

cp: cell biology

cp: developmental biology

lgr5

mapk

mechanoforce

prostate

stromal cells

Grants:

U24CA271012 (NIH – National Cancer Institute)

R01DK100342 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)

R01DK107436 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)

R01DK121275 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)

R01DK103711 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)

R01DK092202 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)

Publication Type:

Article

Unique ID:

10.1016/j.celrep.2022.111313

PMID:

36070687

DOI:

10.1016/j.celrep.2022.111313

Journal:

Cell Reports

Publication Date:

2022-09-01

Data Source:

OpenAlex

Source Link: