Results 161 to 170 of about 4,772 (187)

Innovations in spinal cord cell type heterogeneity across vertebrate evolution

Ignatyev Y, Papadopoulos S, Soretić M, Yeung J, Lin T, Tanaka EM, Peshkin L, Levine AJ, Gabitto MI, Sweeney LB.   +9 more
europepmc   +1 more source

Clinical Application of Genetic Testing in Nephrology. [PDF]

Indian J Nephrol
Jeemon G, Jayram JK, Ganesh K, Kumar JS, Simon S, Abraham MA.   +5 more
europepmc   +1 more source

Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene. [PDF]

J Med Genet
Charng WL, Nikolov M, Shrestha I, Seeley MA, Josyula NS, Justice AE, Dobbs MB, Gurnett CA.   +7 more
europepmc   +1 more source

ASCL1 protein domains with distinct functions in neuronal differentiation and subtype specification. [PDF]

Dev Biol
Nakada Y, Martinez MJ, Johnson JE.
europepmc   +1 more source

Dual role of ZIC2 during neural induction: from pioneer transcription factor to enhancer activator

Mariner-Faulí M, Sánchez-Gaya V, Robert SM, Respuela-Alonso P, de la Cruz-Molina S, Lobato-Moreno S, Trovato M, Prummel KD, Noh K, Zaugg JB, Rada-Iglesias Á.   +10 more
europepmc   +1 more source

Hierarchical lineage architecture of human and avian spinal cord revealed by single-cell genomic barcoding

Boezio GLM, Depotter JRL, Frith TJR, Radley A, Strohbuecker S, Cunha AC, Howell M, Briscoe J.   +7 more
europepmc   +1 more source

Correction: A Dominant-Negative Mutation of Mouse Lmx1b Causes Glaucoma and Is Semi-lethal via LBD1-Mediated Dimerisation

PLoS Genetics, 2014
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Lmx1b activation in axolotl limb regeneration

Developmental Dynamics, 2022
AbstractBackgroundAxolotls can regenerate their limbs. In their limb regeneration process, developmental genes are re‐expressed and reorganize the developmental axes, in which the position‐specific genes are properly re‐expressed. However, how such position specificity is reorganized in the regeneration processes has not been clarified. To address this
Sakiya Yamamoto, Rena Kashimoto, Saya Furukawa, Ayaka Ohashi, Akira Satoh   +4 more
openaire   +2 more sources

Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b +/−) after unilateral nephrectomy

Transgenic Research, 2007
The nail-patella syndrome (NPS) is a rare autosomal-dominant disorder which is caused by loss-of-function mutations in the transcription factor LMX1B. NPS is characterized by dysplastic nails, absent or hypoplastic patellae, minor skeletal abnormalities and nephropathy (in 20-40% of the cases), which is the most severe aspect of the disorder.
Sabine, Endele, Sabine, Klein, Sabine, Richter, Tina, Molter, Kerstin, Amann, Bernd, Klanke, Ralph, Witzgall, Randy L, Johnson, Karl F, Hilgers, Andreas, Winterpacht   +9 more
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Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis

Pediatric Nephrology, 2020
Myelin figures, or zebra bodies, seen on electron microscopy were historically considered pathognomonic of Fabry disease, a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency and associated with X-linked recessive mode of inheritance.
Li, Lei, Gia, Oh, Scott, Sutherland, Graham, Abra, John, Higgins, Richard, Sibley, Megan, Troxell, Neeraja, Kambham   +7 more
openaire   +2 more sources