Susan J Allen

发表

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Peter Nürnberg, Dominik Seelow, Shazia Ashraf, 2009, PLoS genetics.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

Yan Liu, Michael A Kennedy, Hemant Khanna, 2006, Nature Genetics.

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

F. Hildebrandt, Susan J Allen, E. Otto, 2013, Human Genetics.

Obesity and High-Fat Diet Induce Distinct Changes in Placental Gene Expression and Pregnancy Outcome

C. Elias, M. Hoenerhoff, Susan J Allen, 2018, Endocrinology.

Role of the adipocyte-derived hormone leptin in reproductive control

C. Elias, Susan J Allen, D. Garcia-Galiano, 2014, Hormone molecular biology and clinical investigation.

PI3K signalling in leptin receptor cells: Role in growth and reproduction

C. Elias, Susan J Allen, D. Garcia-Galiano, 2019, Journal of neuroendocrinology.

Hypothalamic and Cell-Specific Transcriptomes Unravel a Dynamic Neuropil Remodeling in Leptin-Induced and Typical Pubertal Transition in Female Mice

D. Olson, C. Elias, Susan J Allen, 2020, iScience.

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

F. Hildebrandt, M. Attanasio, Weibin Zhou, 2008, Human mutation.

Insulin signaling in LepR cells modulates fat and glucose homeostasis independent of leptin.

C. Elias, Susan J Allen, D. Garcia-Galiano, 2019, American journal of physiology. Endocrinology and metabolism.

Mutations in EMP2 cause childhood-onset nephrotic syndrome.

S. Levy, T. Hurd, David S. Williams, 2014, American journal of human genetics.

Immortalized Mouse Inner Ear Cell Lines Demonstrate a Role for Chemokines in Promoting the Growth of Developing Statoacoustic Ganglion Neurons

Susan J Allen, K. Barald, Therese M. Roth, 2006, Journal of the Association for Research in Otolaryngology.

Clinical characterization and NPHP1 mutations in nephronophthisis and associated ciliopathies: a single center experience.

F. Hildebrandt, Susan J Allen, E. Otto, 2012, Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia.

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

J. Heckenlively, F. Hildebrandt, Susan J Allen, 2011, Kidney international.

Leptin receptor null mice with reexpression of LepR in GnRHR expressing cells display elevated FSH levels but remain in a prepubertal state.

C. Elias, Susan J Allen, U. Boehm, 2016, American journal of physiology. Regulatory, integrative and comparative physiology.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

M. Rosenfeld, S. Levy, H. Omran, 2013, American journal of human genetics.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

AMPKα2 in Kiss1 Neurons Is Required for Reproductive Adaptations to Acute Metabolic Challenges in Adult Female Mice.

C. Elias, Susan J Allen, M. Torsoni, 2016, Endocrinology.

PI3Kα inactivation in leptin receptor cells increases leptin sensitivity but disrupts growth and reproduction.

Jean J. Zhao, C. Elias, Susan J Allen, 2017, JCI insight.

PI 3 K a inactivation in leptin receptor cells increases leptin sensitivity but disrupts growth and reproduction

Nicole, Jean J. Zhao, C. Elias, 2018 .

ERα Signaling in GHRH/Kiss1 Dual-Phenotype Neurons Plays Sex-Specific Roles in Growth and Puberty

C. Elias, Susan J Allen, M. Myers, 2020, The Journal of Neuroscience.

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

H. Moch, S. Levy, T. Hurd, 2012, Nature Genetics.

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

F. Hildebrandt, Susan J Allen, E. Otto, 2013, Human Genetics.

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

S. Levy, N. Katsanis, T. Hurd, 2013, Kidney international.

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

A. Paterson, H. Prokisch, S. Levy, 2013, The Journal of clinical investigation.

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

H. Omran, Susan J Allen, R. Lyons, 2012, Journal of Medical Genetics.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Colin A. Johnson, T. Hurd, D. Milford, 2010, Journal of Medical Genetics.

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

N. Katsanis, T. Hurd, P. Beales, 2010, Human Genetics.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome

I. Glass, H. Omran, F. Hildebrandt, 2007, Journal of Medical Genetics.

Explorer FAN 1 mutations cause karyomegalic interstitial nephritis , linking chronic kidney failure to defective DNA damage repair

H. Moch, S. Levy, T. Hurd, 2017 .

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

N. Cengiz, R. Lifton, F. Hildebrandt, 2015, Kidney international.

Dissociated Pmch and Cre Expression in Lactating Pmch-Cre BAC Transgenic Mice

C. Elias, Susan J Allen, D. Garcia-Galiano, 2020, Frontiers in Neuroanatomy.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010, The Journal of clinical investigation.

Analysis of histamine as a hair-cell transmitter in the lateral line of Xenopus laevis

R. Sinard, Susan J Allen, S. Bledsoe, 1989, Hearing Research.

Molecular characterization of conditionally immortalized cell lines derived from mouse early embryonic inner ear

Susan J Allen, K. Barald, J. Germiller, 2004, Developmental dynamics : an official publication of the American Association of Anatomists.

Hypothalamic and Cell-Specific Transcriptomes Unravel a Dynamic Neuropil Remodeling in Leptin-Induced and Typical Pubertal Transition in Female Mice

D. Olson, C. Elias, Susan J Allen, 2020, iScience.

ADCK 4 mutations promote steroid-resistant nephrotic syndrome through CoQ 10 biosynthesis disruption

A. Paterson, H. Prokisch, S. Levy, 2018 .

Homozygous NPHP1 deletions in Egyptian children with nephronophthisis including an infantile onset patient

F. Hildebrandt, Susan J Allen, E. Otto, 2010, Pediatric nephrology (Berlin, West).

Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion

A. Nayır, F. Hildebrandt, Susan J Allen, 2011, Pediatric Nephrology.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Colin A. Johnson, S. Levy, Shaohui Wang, 2012, Cell.

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Colin A. Johnson, T. Hurd, D. Milford, 2010, Journal of Medical Genetics.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Journal of Clinical Investigation (2010) 120, 3 (791-802) DOI: 10.1172/JCI40076)

Bethan E. Hoskins, D. Seelow, H. Prokisch, 2010 .

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

N. Katsanis, T. Hurd, P. Beales, 2010, Human Genetics.

PI3Kα inactivation in leptin receptor cells increases leptin sensitivity but disrupts growth and reproduction.

Jean J. Zhao, C. Elias, Susan J Allen, 2017, JCI insight.

Deletion of Androgen Receptor in LepRb Cells Improves Estrous Cycles in Prenatally Androgenized Mice.

C. Elias, Susan J Allen, M. Myers, 2023, Endocrinology.

Glutamate neurotransmission from leptin receptor cells is required for typical puberty and reproductive function in female mice

C. Elias, Susan J Allen, M. Myers, 2023, bioRxiv.