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Developmental Cell, ISSN 1534-5807, 06/2019, Volume 49, Issue 5, pp. 711 - 730.e8
The correct localization of Hedgehog effectors to the tip of primary cilia is critical for proper signal transduction. The conserved non-motile kinesin Kif7... 
microtubule | Hedgehog | mechanochemistry | kinesin | tip-tracking | tubulin | cilia | cilium tip | Kif7 | cryo-EM | Cellular signal transduction | Molecular biology | Tubulins | Kinesin
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2019, Volume 28, Issue 5, pp. 764 - 777
Abstract Primary cilia are hair-like organelles that play crucial roles in vertebrate development, organogenesis and when dysfunctional result in pleiotropic... 
LOCALIZATION | PROTEIN | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE MODEL | GENETICS & HEREDITY | CELL-CYCLE | JOUBERT SYNDROME | INTRAFLAGELLAR TRANSPORT | REGULATING HEDGEHOG | KIF7 MUTATION | PRIMARY CILIUM
Journal Article
Oncotarget, ISSN 1949-2553, 2017, Volume 8, Issue 33, pp. 54558 - 54571
This study investigated kinesin family member 7 (KIF7) expression and function in prostate cancer (PCa). Our results showed that KIF7 was significantly... 
KIF7 | LKB1 | Prostate cancer | Tumor suppressor gene | PROTEIN | PHOSPHORYLATION | PHOSPHATASE | DOWN-REGULATION | PTEN | CELL-LINES | CELL BIOLOGY | INACTIVATION | prostate cancer | CANCER STATISTICS | EXPRESSION | tumor suppressor gene
Journal Article
Pediatric Surgery International, ISSN 0179-0358, 1/2019, Volume 35, Issue 1, pp. 35 - 40
Congenital diaphragmatic hernia (CDH) and associated pulmonary hypoplasia (PH) are thought to be caused by a malformation of the diaphragmatic and pulmonary... 
Pediatrics | Disp-1 | Congenital diaphragmatic hernia | Medicine & Public Health | Surgery | Lung | Pulmonary hypoplasia | Diaphragm | Pediatric Surgery | Nitrofen | LYSYL OXIDASE | SURGERY | PEDIATRICS | MECHANISMS | KIF7 | DISP1 | Hernia | Complications and side effects | Development and progression | Genetic aspects | Research
Journal Article
The EMBO Journal, ISSN 0261-4189, 09/2014, Volume 33, Issue 17, pp. 1852 - 1854
Primary cilia are solitary, microtubule‐based organelles that serve as signaling hubs for the Hedgehog (Hh) pathway, which regulates embryonic development and... 
BIOCHEMISTRY & MOLECULAR BIOLOGY | PROTEIN KIF7 | CELL BIOLOGY | Hedgehog Proteins - metabolism | Animals | Signal Transduction | Humans | Cilia - metabolism | Kinesin - metabolism | Signal transduction | Transcription factors | Biochemistry | Cellular biology | Molecular biology | Have You Seen?
Journal Article
Molecular Syndromology, ISSN 1661-8769, 10/2015, Volume 6, Issue 4, pp. 173 - 180
Acrocallosal syndrome (ACLS) is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum, facial dysmorphism, postaxial polydactyly... 
Original Article | Ciliopathy | Acrocallosal syndrome | KIF7 | Agenesis of corpus callosum | Sonic hedgehog pathway | Original
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2014, Volume 111, Issue 34, pp. 12450 - 12455
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing
Journal Article
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 01/2015, Volume 60, Issue 1, pp. 17 - 25
Typical orofacial clefts (OFCs) comprise cleft lip, cleft palate and cleft lip and palate. The complex etiology has been postulated to involve chromosome... 
LIP | DEFECTS | ORAL CLEFTS | ROLES | CANDIDATE GENES | GROWTH | GENETICS & HEREDITY | KANSL1 CAUSE | PALATE | IDENTIFICATION | KIF7 | Cleft Lip - genetics | Phenotype | Genetic Association Studies | Humans | Kinesin - genetics | Female | Male | Cleft Palate - genetics | Transcription Factors - genetics | DNA Copy Number Variations | Elongin | Protein Isoforms - genetics
Journal Article