Results 91 to 100 of about 512 (102)

Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.

Sex Dev
Wankanit S, Elzaiat M, Talouarn E, Schlick L, Bashamboo A, McElreavey K, Brauner R.   +6 more
europepmc   +1 more source

Molecular mechanism of the RNA helicase DHX37 and its activation by UTP14A in ribosome biogenesis [PDF]

Rna, 2019
Eukaryotic ribosome biogenesis is a highly orchestrated process involving numerous assembly factors including ATP-dependent RNA helicases. The DEAH helicase DHX37 (Dhr1 in yeast) is activated by the ribosome biogenesis factor UTP14A to facilitate ...
Martin Jinek, Ulrike Kutay, Jasmin van den Heuvel   +2 more
exaly   +3 more sources

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD [PDF]

Journal of the Endocrine Society, 2019
Context: The genetic basis of human sex development is slowly being elucidated and more than 40 different genetic causes of differences (or disorders) of sex development (DSD) have now been reported.
Lin Lin, John Achermann, Thomas King
exaly   +5 more sources

The human RNA helicase DHX37 is required for release of the U3 snoRNP from pre-ribosomal particles

RNA Biology, 2019
Ribosome synthesis is an essential cellular process, and perturbation of human ribosome production is linked to cancer and genetic diseases termed ribosomopathies. During their assembly, pre-ribosomal particles undergo numerous structural rearrangements,
Markus T Bohnsack, Philipp Hackert, Katherine E Sloan   +2 more
exaly   +2 more sources

Coexistence of SRY, DHX37 and POR gene variants in a patient with 46,XY disorder of sex development

Journal of Pediatric Endocrinology and Metabolism
Here we present a case of 46,XY disorder of sex development (DSD) in which three variants were detected in the SRY, DHX37, and POR genes. A patient with 46,XY karyotype and female phenotype presented at 15 years 3 months of age due to absence of puberty.
Ayberk Türkyılmaz, Binali Firinci, Håkan Doneray   +2 more
exaly   +2 more sources

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DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis

Life, 2023
Olaf Hiort, Helena Fabbri-Scallet, Gil Guerra-Junior   +2 more
exaly  

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

Genetics in Medicine, 2020
Serge Nef, Agnes Sallai, Ken McElreavey   +2 more
exaly   +2 more sources

Child Neurology: Clinical and Imaging Findings in a Child With DHX37 Gene Variant

Neurology
Manohar Shroff, Carolina Gorodetsky
exaly