Results 81 to 90 of about 4,807 (209)
The lmx1b gene is pivotal in glomus development in Xenopus laevis
Developmental Biology, 2008 We have previously shown that lmx1b, a LIM homeodomain protein, is expressed in the pronephric glomus. We now show temporal and spatial expression patterns of lmx1b and its potential binding partners in both dissected pronephric anlagen and in individual dissected components of stage 42 pronephroi.
Haldin, Caroline E. +5 more
openaire +2 more sources
Functional Characterization of LMX1B Mutations Associated with Nail-Patella Syndrome [PDF]
Pediatric Research, 2005 Nail-patella syndrome (NPS) is an autosomal dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and nephropathy. Recently, it was shown that NPS is the result of heterozygous mutations in the LIM-homeodomain gene, LMX1B.
Utako, Sato +5 more
openaire +2 more sources
Identification and characterization of novel glomerulus-associated genes and proteins [PDF]
, 2010 The kidney is responsible for sieving the circulating blood to eliminate water-soluble waste products and potentially toxic substances from the body. The filtration step occurs in specialized filtration units called glomeruli.
Xiao, Zhijie
core
Genetics of Common Obesity in Children and Adolescents
Annals of the New York Academy of Sciences, Volume 1553, Issue 1, Page 34-49, November 2025.Abstract Childhood obesity is a multifactorial public health problem worldwide. Genetic variation influences the predisposition to develop obesity at early stages of life. Childhood obesity may be classified as syndromic, monogenic, or polygenic depending on the genetic component.
Guadalupe León‐Reyes +2 more
wiley +1 more source
The chick limb: embryology, genetics and teratology [PDF]
, 2018 MD is supported by the BBSRC through a BBSRC Institute Strategic Grant, MT is a Wellcome Trust Senior Fellow and NV’s studies on thalidomide were supported by The Wellcome Trust. We all thank lab members past and present for their help and support.
Davey, Megan +3 more
core +2 more sources
LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement [PDF]
Journal of the American Society of Nephrology, 2013 LMX1B encodes a homeodomain-containing transcription factor that is essential during development. Mutations in LMX1B cause nail-patella syndrome, characterized by dysplasia of the patellae, nails, and elbows and FSGS with specific ultrastructural lesions of the glomerular basement membrane (GBM).
Olivia, Boyer +21 more
openaire +2 more sources
Nature Communications, 2017 Midbrain dopaminergic neurons (mDAs) in the VTA and SNpc project to different regions and form distinct circuits. Here the authors show that transcription factors Lmx1a, Lmx1b, and Otx2 control the axon guidance of mDAs and the segregation of mesolimbic ...
Audrey Chabrat +14 more
doaj +1 more source
Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome
American Journal of Ophthalmology Case Reports, 2020 Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle ...
Margot A. Gardin +4 more
doaj +1 more source
4in1 Procedure in Treating Congenital Dislocation of Patella in Children
Orthopaedic Surgery, Volume 17, Issue 9, Page 2647-2652, September 2025.Congenital dislocation of patella (CDP) is a rare condition. The 4in1 procedure includes lateral release, correction of quadriceps, Roux‐Goldthwait procedure, and medial patello‐femoral ligament (MPFL) reconstruction. Early diagnosis and the 4in1 procedure optimize patellar stability and knee function, preventing long‐term complications.
Meng‐jie Chen +6 more
wiley +1 more source
Focal segmental glomerulosclerosis: Molecular genetics and targeted therapies [PDF]
, 2015 Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2.
Chen, Ying Maggie, Liapis, Helen
core +2 more sources