Results 81 to 90 of about 19,530 (228)

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives

Kidney International Reports
Introduction: Variants in the Ras-related GTPase D (RRAGD) gene have been associated with autosomal dominant kidney hypomagnesemia (ADKH) characterized by hypokalemia, nephrocalcinosis, and dilated cardiomyopathy (DCM).
Anastasia Adella, François Jouret, Leire Madariaga, Pieter A. Leermakers, Pedro Arango, Gema Ariceta, Bodo B. Beck, Anna Bjerre, Detlef Bockenhauer, Paula Coccia, Radhika Dhamija, Fernando de Frutos, Alejandro Garcia-Castano, Sara B. van Katwijk, Jesus Lucas, Thomas Möller, Dominik Müller, Filippo Pinto e Vairo, Melinda Raki, Jonathan Rips, Karl Peter Schlingmann, Hanka Venselaar, Matheus Vernet Machado Bressan Wilke, Tom Nijenhuis, Joost Hoenderop, Jeroen de Baaij   +25 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Case Report: Evaluation of COL4A5 non-canonical splicing variants in two families

Frontiers in Medicine
IntroductionAlport syndrome is one of the most prevalent monogenic kidney diseases, resulting from the defects in COL4A3, COL4A4, and/or COL4A5 genes. Interpretation of non-canonical splicing variants can be challenging.
Chee Teck Koh, Chee Teck Koh, Tina Si Ting Lim, Tina Si Ting Lim, Alwin Hwai Liang Loh, Yan Fei Ng, Jia Liang Kwek, Perry Yew Weng Lau, Perry Yew Weng Lau, Hui-lin Chin, Hui-lin Chin, Jun Li Ng, Jun Li Ng, Mya Than, Mya Than, Irene Yanjia Mok, Cynthia Ciwei Lim, Kay Yuan Chong, Jason Chon Jun Choo, Hui Kim Yap, Hui Kim Yap, Kar Hui Ng, Kar Hui Ng, Yaochun Zhang, Yaochun Zhang   +24 more
doaj   +1 more source

Topical Losartan Treatment of Herpes Simplex Virus- or Varicella-Zoster Virus-Induced Corneal Scarring: A Case Series

Case Reports in Ophthalmology
Introduction: Topical losartan has emerged as a promising therapeutic option for preventing and treating corneal scarring fibrosis. Its mechanism of action involves the inhibition of ERK-mediated signaling in the noncanonical TGF-beta pathways,
Barbara A.L. Dutra, Laura E. Drew-Bear, Samantha P. Herretes, Danielle Arroyo, Rodrigo Carlos de Oliveira, Lycia Pedral Sampaio, Marcony R. Santhiago, Steven E. Wilson   +7 more
doaj   +1 more source

Nekanoničko padežno kodiranje subjekata u nekim sjevernogermanskim jezicima i hrvatskom

Studia Romanica et Anglica Zagrabiensia, 2004
Non-canonical case marking of subjects (also known as dative subjects, oblique subjects, oblique subject-like NPs, preverbal oblique nominals, 'quirky case') has been a matter of considerable debate for quite some time. In most traditional grammars the dative was simply assumed to be the subject because it was the 'thing being talked about', or because
openaire   +2 more sources

Phosphorylation of N-glycans in the brain: The case for a non-canonical pathway?

BBA Advances
Asparagine-linked glycosylation (N-glycosylation) is a common co- and post-translational modification that refers to the addition of complex carbohydrates, called N-linked glycans (N-glycans), to asparagine residues within defined sequons of polypeptide ...
Lucija Sironić, Nikol Mraz, Gordan Lauc, Thomas S. Klarić   +3 more
doaj   +1 more source

Isocitrate Dehydrogenase-Mutant WHO Grade 4 Astrocytoma with BCOR Alteration: Case Report

Case Reports in Oncology
Introduction: BCOR, a transcriptional regulator and component of the noncanonical polycomb repressive complex 1 (PRC1), plays an important role in tumorigenesis through transcriptional repression mediated by histone modifications.
Maher Kurdi, Alaa Alkhotani, Badr Hafiz, Eyad Faizo, Fahad Okal, Ahmad Albeshri, Ahmed Najjar, Huda Alghefari, Faisal Mrair, Saleh Baeesa   +9 more
doaj   +1 more source

A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia

Frontiers in Oncology
BackgroundIt has been discovered that Janus kinase 2 (JAK2) exon12 mutations lead to the polycythemia vera (PV) phenotype, while somatic mutations of calreticulin (CALR) are associated with essential thrombocythemia (ET) or primary myelofibrosis. In this
Zhuanghui Hao, Juan Li, Feng Gao, Weixiao Ren, Xiaomei Lu, Jinyi Feng, Chen Zhang, Sicheng Bian, Juan Xie, Ming Luo, Jianmei Chang, Wanfang Yang, Ruixia Hou, Daniel Muteb Muyey, Jing Xu, Jiangxia Cui, Xiuhua Chen, Hongwei Wang   +17 more
doaj   +1 more source