Published in Neurogenetics on October 22, 2004
Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity. Brain (2012) 1.69
Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. Am J Hum Genet (2007) 1.24
Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res (2010) 1.22
RAB26 and RAB3D are direct transcriptional targets of MIST1 that regulate exocrine granule maturation. Mol Cell Biol (2009) 1.19
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors. PLoS Genet (2015) 1.03
Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet (2009) 0.97
Cellular commitment in the developing cerebellum. Front Cell Neurosci (2015) 0.86
Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet (2014) 0.81
Purkinje cell compartmentation in the cerebellum of the lysosomal Acid phosphatase 2 mutant mouse (nax - naked-ataxia mutant mouse). PLoS One (2014) 0.79
The juvenile alopecia mutation (jal) maps to mouse Chromosome 2, and is an allele of GATA binding protein 3 (Gata3). BMC Genet (2013) 0.77
Cerebellar Expression of the Neurotrophin Receptor p75 in Naked-Ataxia Mutant Mouse. Int J Mol Sci (2016) 0.75
Forward Genetic Screen in Caenorhabditis elegans Suggests F57A10.2 and acp-4 As Suppressors of C9ORF72 Related Phenotypes. Front Mol Neurosci (2016) 0.75
Lysosomal acid phosphatase 2 is an unfavorable prognostic factor but is associated with better survival in stage II colorectal cancer patients receiving chemotherapy. Oncotarget (2017) 0.75
Protein measurement with the Folin phenol reagent. J Biol Chem (1951) 1743.91
Targeted disruption of the cyclin-dependent kinase 5 gene results in abnormal corticogenesis, neuronal pathology and perinatal death. Proc Natl Acad Sci U S A (1996) 4.16
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet (1994) 3.89
At the acidic edge: emerging functions for lysosomal membrane proteins. Trends Cell Biol (2003) 3.26
Mechanisms of neural patterning and specification in the developing cerebellum. Annu Rev Neurosci (1995) 3.26
A comprehensive guide for the recognition and classification of distinct stages of hair follicle morphogenesis. J Invest Dermatol (1999) 2.92
Cathepsin L deficiency as molecular defect of furless: hyperproliferation of keratinocytes and pertubation of hair follicle cycling. FASEB J (2000) 2.09
Lysosomal acid phosphatase is transported to lysosomes via the cell surface. EMBO J (1989) 2.04
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet (2003) 1.84
The neuropathogenic contributions of lysosomal dysfunction. J Neurochem (2002) 1.72
Cellular pathology of lysosomal storage disorders. Brain Pathol (1998) 1.22
Riding the glial monorail: a common mechanism for glial-guided neuronal migration in different regions of the developing mammalian brain. Trends Neurosci (1990) 1.20
Overlapping functions of lysosomal acid phosphatase (LAP) and tartrate-resistant acid phosphatase (Acp5) revealed by doubly deficient mice. Development (2001) 1.19
Lysosomal storage diseases. Biochim Biophys Acta (1995) 1.18
Cerebellar disorganization characteristic of reeler in scrambler mutant mice despite presence of reelin. J Neurosci (1997) 1.18
Crystal structure of human prostatic acid phosphatase . Prostate (2000) 1.16
Sequential processing of lysosomal acid phosphatase by a cytoplasmic thiol proteinase and a lysosomal aspartyl proteinase. EMBO J (1989) 1.12
S100 protein expression in subpopulations of neurons of rat brain. Neuroscience (1995) 1.11
Regulation of Purkinje cell alignment by reelin as revealed with CR-50 antibody. J Neurosci (1997) 1.10
Tartrate-inhibitable acid phosphatase. Purification from placenta, characterization and subcellular distribution in fibroblasts. Hoppe Seylers Z Physiol Chem (1984) 1.01
Mutant laboratory mice with abnormalities in hair follicle morphogenesis, cycling, and/or structure: annotated tables. Exp Dermatol (2001) 1.00
Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system. J Biol Chem (1997) 0.99
Mitogenic function of human procathepsin D: the role of the propeptide. Biochem J (1994) 0.94
Lysosomal acid phosphatase is internalized via clathrin-coated pits. Eur J Cell Biol (1992) 0.94
Male mice lacking the Theg (testicular haploid expressed gene) protein undergo normal spermatogenesis and are fertile. Biol Reprod (2003) 0.90
Identification of the weaver mouse mutation: the end of the beginning. Neuron (1996) 0.89
Immunological characterization of human acid phosphatase gene products. Biochem Genet (1985) 0.87
Effect of procathepsin D and its activation peptide on prostate cancer cells. Cancer Lett (1998) 0.87
Ultrastructural localization of tartrate-resistant, purple acid phosphatase in rat osteoclasts by histochemistry and immunocytochemistry. J Bone Miner Res (1989) 0.84
Characterization and expression of tartrate-resistant acid phosphatase (TRAP) in hematopoietic cells. Leukemia (1994) 0.83
Cerebello-trigeminal-dermal dysplasia (Gómez-López-Hernández syndrome): description of three new cases and review. Am J Med Genet (1997) 0.77
Localization of lysosomal acid phosphatase mRNA in mouse tissues. J Histochem Cytochem (1992) 0.76
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
Pluripotency of spermatogonial stem cells from adult mouse testis. Nature (2006) 4.29
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet (2004) 2.67
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
In vitro-differentiated embryonic stem cells give rise to male gametes that can generate offspring mice. Dev Cell (2006) 2.30
Stem-cell protein Piwil2 is widely expressed in tumors and inhibits apoptosis through activation of Stat3/Bcl-XL pathway. Hum Mol Genet (2005) 2.17
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet (2002) 1.99
Derivation of male germ cells from bone marrow stem cells. Lab Invest (2006) 1.88
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Mechanisms of TGF-beta-mediated apoptosis. Cell Tissue Res (2001) 1.72
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet (2009) 1.71
Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci (2008) 1.71
Genotype-phenotype correlations in Noonan syndrome. J Pediatr (2004) 1.70
Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet (2004) 1.62
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet (2006) 1.59
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat (2010) 1.59
Common genetic variants associated with open-angle glaucoma. Hum Mol Genet (2011) 1.58
NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet (2011) 1.56
Fibrosis and evidence for epithelial-mesenchymal transition in the kidneys of patients with staghorn calculi. BJU Int (2011) 1.55
Inactivation of insulin-like factor 6 disrupts the progression of spermatogenesis at late meiotic prophase. Endocrinology (2009) 1.52
The multiple facets of the TGF-β family cytokine growth/differentiation factor-15/macrophage inhibitory cytokine-1. Cytokine Growth Factor Rev (2013) 1.49
Multipotent adult germline stem cells and embryonic stem cells: comparative proteomic approach. J Proteome Res (2009) 1.47
Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46
MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation. Hum Mutat (2014) 1.45
The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse. Hum Mol Genet (2002) 1.45
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet (2011) 1.42
Transforming growth factor-beta(s) are essential for the development of midbrain dopaminergic neurons in vitro and in vivo. J Neurosci (2003) 1.40
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest (2011) 1.39
Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. Am J Pathol (2008) 1.38
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet (2013) 1.34
Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet (2012) 1.33
Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis. J Invest Dermatol (2008) 1.32
Generation of functional cardiomyocytes from adult mouse spermatogonial stem cells. Circ Res (2007) 1.32
Stem cell based therapeutical approach of male infertility by teratocarcinoma derived germ cells. Hum Mol Genet (2004) 1.31
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet (2003) 1.31
Stem cell protein Piwil2 modulates expression of murine spermatogonial stem cell expressed genes. Mol Reprod Dev (2006) 1.31
Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol (2009) 1.26
Pathways of proliferation and antiapoptosis driven in breast cancer stem cells by stem cell protein piwil2. Cancer Res (2010) 1.26
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A (2004) 1.26
Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur Heart J (2010) 1.25
Multipotent adult germline stem cells and embryonic stem cells have similar microRNA profiles. Mol Hum Reprod (2008) 1.24
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
Targeted deletion of murine coagulation factor XII gene-a model for contact phase activation in vivo. Thromb Haemost (2004) 1.23
Genetic regulation of serum phytosterol levels and risk of coronary artery disease. Circ Cardiovasc Genet (2010) 1.23
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet (2011) 1.21
Reduction of spermatogenesis but not fertility in Creb3l4-deficient mice. Mol Cell Biol (2005) 1.20
GREAT/LGR8 is the only receptor for insulin-like 3 peptide. Mol Endocrinol (2003) 1.20
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am J Med Genet (2002) 1.19
TNF polymorphisms in psoriasis: association of psoriatic arthritis with the promoter polymorphism TNF*-857 independent of the PSORS1 risk allele. Arthritis Rheum (2007) 1.19
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration. EMBO Rep (2007) 1.18
Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein. Neurogenetics (2006) 1.15
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet (2007) 1.15
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet (2010) 1.14
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis. Mol Genet Metab (2005) 1.14
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet (2007) 1.14
Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients. Ann Rheum Dis (2009) 1.13
Tgfbeta2 -/- Tgfbeta3 -/- double knockout mice display severe midline fusion defects and early embryonic lethality. Anat Embryol (Berl) (2002) 1.12
Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet (2011) 1.12
Isolation and cultivation of stem cells from adult mouse testes. Nat Protoc (2009) 1.11
Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics (2009) 1.10
Rare copy number variants are a common cause of short stature. PLoS Genet (2013) 1.10
Asthenozoospermia in mice with targeted deletion of the sperm mitochondrion-associated cysteine-rich protein (Smcp) gene. Mol Cell Biol (2002) 1.09
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet (2004) 1.09
Members of the miR-290 cluster modulate in vitro differentiation of mouse embryonic stem cells. Differentiation (2009) 1.09
Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome. Am J Med Genet A (2007) 1.09
The German Chronic Kidney Disease (GCKD) study: design and methods. Nephrol Dial Transplant (2011) 1.09
Genome scan for childhood and adolescent obesity in German families. Pediatrics (2003) 1.08
Pluripotent stem cells are highly susceptible targets for syngeneic, allogeneic, and xenogeneic natural killer cells. FASEB J (2010) 1.08
Male restricted genetic association of variant R620W in PTPN22 with psoriatic arthritis. J Invest Dermatol (2006) 1.07
GDNF applied to the MPTP-lesioned nigrostriatal system requires TGF-beta for its neuroprotective action. Neurobiol Dis (2006) 1.06
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci (2009) 1.05
Putative human male germ cells from bone marrow stem cells. Soc Reprod Fertil Suppl (2007) 1.04
Sox15 is required for skeletal muscle regeneration. Mol Cell Biol (2004) 1.04
TGFβ signalling plays an important role in IL4-induced alternative activation of microglia. J Neuroinflammation (2012) 1.04
TGF-betas and their roles in the regulation of neuron survival. Adv Exp Med Biol (2002) 1.03
De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet (2013) 1.01