Glomerulopathy in patients with distal duplication of chromosome 6p [PDF]
, 2016 Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a ...
Bernaciak, Joanna +5 more
core +1 more source
Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement
JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley +1 more source
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). [PDF]
, 2019 BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins.
Altunoglu, U +20 more
core +3 more sources
En1 and Wnt signaling in midbrain dopaminergic neuronal development [PDF]
, 2011 Dopaminergic neurons of the ventral mesodiencephalon are affected in significant health disorders such as Parkinson's disease, schizophrenia, and addiction.
Maria TM Alves dos Santos +1 more
core +1 more source
A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins
Human Genome VariationNail–patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242del), in ...
Nozomu Kishio +11 more
doaj +1 more source
The human LMX1B gene: transcription unit, promoter, and pathogenic mutations
Genomics, 2004 LMX1B is a LIM-homeodomain transcription factor required for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Heterozygous loss-of-function mutations in LMX1B cause nail patella syndrome (NPS).
Jennifer A, Dunston +9 more
openaire +2 more sources
Sleep characteristics modify the association between genetic predisposition to obesity and anthropometric measurements in 119,679 UK Biobank participants [PDF]
, 2017 Background - Obesity is a multifactorial condition influenced by genetics, lifestyle and environment. Objective - To investigate whether the association between a validated genetic profile risk score for obesity (GPRS-obesity) with body mass index (BMI)
Bailey, Mark E.S. +10 more
core +1 more source
Ihmisen mesenkymaalisten kantasolujen erilaistaminen dopaminergisiksi neuroneiksi aivoelektrodimateriaaleilla [PDF]
, 2016 Mesenchymal stem cells (MSCs) are multipotent cells that can differentiate into various cell types depending on their environment, but cannot undergo neurogenesis in normal conditions.
Mynttinen, Elsi
core
Lmx1b Modulates Extracellular Matrix Expression During Limb Dorsalization
The FASEB Journal, 2009 . Lmx1b is a homeodomain transcription factor that is known to regulate dorsal limb identity and Lmx1b knockout (KO) mice develop nearly symmetrical ventral‐ventral limbs. Currently,
Jennifer Marie Feenstra +3 more
openaire +1 more source
Arthropathy and proteinuria: nail-patella syndrome revisited
GMS German Medical Science, 2014 [english] Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious
Albishri, Jamal
doaj +1 more source