4.1 Article

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation

Emanuela Senatore et al.

Summary: A novel complex assembled at centrosomes by TBC1D31, including praja2, PKA, and OFD1, is essential for ciliogenesis. PKA phosphorylates OFD1 at ser735 upon GPCR-cAMP stimulation, promoting OFD1 proteolysis through the praja2-UPS circuitry. Disruption of this control mechanism may lead to human genetic disorders.

EMBO JOURNAL (2021)

Article Genetics & Heredity

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrian Palencia-Campos et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2020)

Letter Genetics & Heredity

IFT172 as the 19th gene causative of oral-facial-digital syndrome

Mamiko Yamada et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

Article Genetics & Heredity

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome

Shu Tadaka et al.

HUMAN GENOME VARIATION (2019)

Article Genetics & Heredity

Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes

Ange-Line Bruel et al.

JOURNAL OF MEDICAL GENETICS (2017)

Article Multidisciplinary Sciences

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek et al.

NATURE (2016)

Article Genetics & Heredity

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher et al.

NATURE GENETICS (2014)

Letter Biochemical Research Methods

MutationTaster2: mutation prediction for the deep-sequencing age

Jana Marie Schwarz et al.

NATURE METHODS (2014)

Article Biochemistry & Molecular Biology

ClinVar: public archive of relationships among sequence variation and human phenotype

Melissa J. Landrum et al.

NUCLEIC ACIDS RESEARCH (2014)

Letter Biochemical Research Methods

A method and server for predicting damaging missense mutations

Ivan A. Adzhubei et al.

NATURE METHODS (2010)

Article Genetics & Heredity

Considerations for a multiaxis nomenclature system for medical genetics

NH Robin et al.

GENETICS IN MEDICINE (2001)