Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome

A novel DEAH-box helicase 37 mutation associated with differences of sex development

(2023) Yun Wan et al.   Frontiers in Endocrinology

DHX37 and 46,XY DSD: A New Ribosomopathy?

(2022) Kenneth McElreavey et al.   Sexual Development

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

(2020) Caroline Eozenou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Wnt/β-Catenin Pathway is Activated as a Novel Nucleolar Stress Response

(2020) David P. Dannheisig et al.   JOURNAL OF MOLECULAR BIOLOGY

Molecular mechanism of the RNA helicase DHX37 and its activation by UTP14 in ribosome biogenesis

(2019) Franziska Boneberg et al.   RNA

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

(2019) Ken McElreavey et al.   GENETICS IN MEDICINE

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum

(2019) Thatiana Evilen da Silva et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

(2018) Abigail Harris et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sex reversal following deletion of a single distal enhancer ofSox9

(2018) Nitzan Gonen et al.   SCIENCE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mutual protection of ribosomal proteins L5 and L11 from degradation is essential for p53 activation upon ribosomal biogenesis stress

(2012) S. Bursac et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA