Results 201 to 210 of about 225,841 (261)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Correction to "Alternative RNA Splicing of the GIT1 Gene Is Associated With Neuroendocrine Prostate Cancer". [PDF]

Cancer Sci
europepmc   +1 more source

Changes in the Proteome and Phosphoproteome of <i>Zea mays</i> Tissues in Drought Stress Show Plant Tissue Responses from Dehydrins, Carboxylic Acid Metabolism, RNA Splicing and Transcription Factors. [PDF]

Proteomes
Charlton GH, Zampronio C, Bottrill AR, Sinclair J, Kilby PM, Jones AME.   +5 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

RNA splicing modulator for Huntington's disease treatment induces peripheral neuropathy. [PDF]

iScience
Krach F, Boerstler T, Neubert S, Krumm L, Regensburger M, Winkler J, Winner B.   +6 more
europepmc   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

Exploring the connection between RNA splicing and intellectual disability. [PDF]

Curr Opin Genet Dev
Caputo A, Schaffer AE.
europepmc   +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

SPLiCR-seq: A CRISPR-Based Screening Platform for RNA splicing Identifies Novel Regulators of IRE1α-XBP1 Signaling Under ER Stress. [PDF]

Nat Commun
Ying Q, Chen Y, Shen L, Xu Y, Tian R.
europepmc   +1 more source

RNA splicing: Novel star in pulmonary diseases with a treatment perspective. [PDF]

Acta Pharm Sin B
Niu Z, Xu B, Li W, Sun J, Liang H.
europepmc   +1 more source