Disease on EC 1.1.1.170 - 3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating)
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3beta-hydroxysteroid-4alpha-carboxylate 3-dehydrogenase (decarboxylating) deficiency
Analysis of Nsdhl-deficient embryos reveals a role for Hedgehog signaling in early placental development.
Brain Diseases
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Breast Neoplasms
NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.
Breast Neoplasms
NSDHL promotes triple-negative breast cancer metastasis through the TGF? signaling pathway and cholesterol biosynthesis.
Carcinoma
A New Survival Model Based on Cholesterol Biosynthesis-Related Genes for Prognostic Prediction in Clear Cell Renal Cell Carcinoma.
Carcinoma
Cholesterol Pathway Inhibition Induces TGF-? Signaling to Promote Basal Differentiation in Pancreatic Cancer.
Carcinoma
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
Dermatitis, Exfoliative
Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome.
Hypoventilation
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Intellectual Disability
Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.
Intellectual Disability
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Muscular Diseases
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event].
Neoplasm Metastasis
NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.
Neoplasm Metastasis
NSDHL promotes triple-negative breast cancer metastasis through the TGF? signaling pathway and cholesterol biosynthesis.
Neoplasms
Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.
Neoplasms
Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.
Neoplasms
NAD(P)-dependent steroid dehydrogenase-like is involved in breast cancer cell growth and metastasis.
Neoplasms
NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.
Neoplasms
NSDHL promotes triple-negative breast cancer metastasis through the TGF? signaling pathway and cholesterol biosynthesis.
Neoplasms
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation.
Nevus
A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi.
Nevus
Genetic variant in the NSDHL gene in a cat with multiple congenital lesions resembling inflammatory linear verrucous epidermal nevi.
Nevus
Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets.
Nevus
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
Placental Insufficiency
Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.
Stomach Neoplasms
NAD(P)-dependent steroid dehydrogenase-like protein and neutral cholesterol ester hydrolase 1 serve as novel markers for early detection of gastric cancer identified using quantitative proteomics.
Triple Negative Breast Neoplasms
NSDHL promotes triple-negative breast cancer metastasis through the TGF? signaling pathway and cholesterol biosynthesis.
Xanthomatosis
Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.
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