Results 81 to 90 of about 1,877 (178)
Clinical Case Reports, Volume 13, Issue 8, August 2025.ABSTRACT Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low‐resource settings. Sibling cases with neurodevelopmental delays and MRI‐confirmed molar tooth sign highlight the urgent need for heightened clinical suspicion, accessible neuroimaging, and genetic counseling to address underdiagnosis in
Ahmed Alshafei Elmahi Ahmed +10 more
wiley +1 more source
Genetic testing for Bardet-Biedl syndrome
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Bardet- Biedl syndrome (BBS). The disease has autosomal recessive inheritance, a prevalence varying from one in 13 500 to one in
Abeshi Andi +5 more
doaj +1 more source
Saudi Journal of Kidney Diseases and Transplantation, 2019 A 19-year-old female with a learning difficulty, ataxia, and nystagmus was referred to our clinic with advanced chronic kidney disease. Her renal biopsy revealed features of nephronophthisis (NPHP).
Elbadri Abdelgadir +4 more
doaj +1 more source
Disruption of mc1r Disturbs Skin Pigmentation in Xenopus tropicalis
Pigment Cell &Melanoma Research, Volume 38, Issue 4, July 2025.ABSTRACT The melanocortin 1 receptor (MC1R) is well‐established as a pivotal regulator of pigmentation in various species. Despite a wealth of research focused on mammals and fish, the role of Mc1r in amphibians has remained largely unexplored. This study was designed to elucidate the contribution of Mc1r in Xenopus tropicalis.
Lanxin Li +3 more
wiley +1 more source
Plk1 colocalizes with NPHP1 at the base of the cilium.
, 2012 A Ciliated hTERT-RPE1 (human retinal pigmented epithelial cells and HK2 human kidney cells were stained with antibody to Plk1 (green), acetylated α-tubulin (orange), and γ-tubulin (red), and treated with DAPI to visualize DNA (blue).
Tamina Seeger-Nukpezah (159345) +6 more
core +1 more source
, 2023 Background: Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and NPHP1 is the major pathogenic gene.
Xiaoya Wei (631327) +12 more
core +1 more source
American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson +10 more
wiley +1 more source
Journal of Cell Communication and Signaling, Volume 19, Issue 2, June 2025.Abstract CEP162, a 162‐kDa centrosome protein, is a crucial centrosomal adapter, mediating cell differentiation and polarization. CEP162 maintains mitosis by dynamically stabilizing microtubules. CEP162 promotes the transition zone (TZ) assembly in the basal body through interaction with CEP131, CEP290, and axoneme microtubules as well as the distal ...
Jun Yin +7 more
wiley +1 more source
, 2023 Background: Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and NPHP1 is the major pathogenic gene.
Huamu Chen (16712406) +25 more
core +1 more source
, 2023 Background: Nephronophthisis (NPH) is the most common genetic cause of end-stage renal disease (ESRD) in childhood, and NPHP1 is the major pathogenic gene.
Xiaoya Wei (631327) +12 more
core +1 more source