Results 71 to 80 of about 2,585 (164)

α‐Synuclein Pathology Spreads in a Midbrain–Hindbrain Assembloid Model

Advanced Science, Volume 12, Issue 20, May 29, 2025.
A novel midbrain–hindbrain assembloid model demonstrates the spread of α‐synuclein pathology, a hallmark of Parkinson's disease, mimicking Braak's hypothesis. This model reveals how pathology propagates from the hindbrain to the midbrain, inducing synaptic changes and early signs of neuronal vulnerability. It offers an innovative platform for exploring
Gemma Gomez‐Giro, Daniela Frangenberg, Daniela Vega, Alise Zagare, Kyriaki Barmpa, Paul M. A. Antony, Graham Robertson, Rahman Sabahi‐Kaviani, Kristian Haendler, Nathalie Kruse, Florentia Papastefanaki, Rebecca Matsas, Malte Spielmann, Regina Luttge, Jens C. Schwamborn   +14 more
wiley   +1 more source

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang, Bin Zhang, Jing Wang, Wei Qiao, Xiuzhen Mao, Bin Yu   +5 more
wiley   +1 more source

ABCA6 Regulates Chondrogenesis and Inhibits Joint Degeneration via Orchestrated Cholesterol Efflux and Cellular Senescence

Advanced Science, Volume 12, Issue 10, March 13, 2025.
Patellar dysplasia may cause patellar dislocation and osteoarthritis (OA). A novel ABCA6 mutation in a four ‐ generation family is identified. ABCA6 is related to patellar dysplasia and OA progression. Its downregulation correlates with OA onset. ABCA6 regulates chondrogenesis and inhibits joint degeneration via orchestrated cholesterol efflux and ...
Yi Wang, Qiang Wu, Yongqing You, Wenbo Jiang, Peiliang Fu, Kerong Dai, Ye Sun   +6 more
wiley   +1 more source

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins

Human Genome Variation
Nail–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, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito   +11 more
doaj   +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

LMX1B mutations with nails and kneecaps: a new paradigm? [PDF]

Nephrology Dialysis Transplantation, 2013
tation from older living donors. Transplantation 2013; 95: 106–113 20. Fuggle SV, Allen JE, Johnson RJ et al. Factors affecting graft and patient survival after live donor kidney transplantation in the UK. Transplantation 2010; 89: 694–701 21. Chang P, Gill J, Dong J et al.
openaire   +2 more sources

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

A novel variation in the LMX1B gene with nail-patella syndrome

Pathology - Research and Practice
Nail-patella syndrome (NPS; OMIM #161200) is an autosomal dominant disorder characterized by developmental defects in dorsal limb structures, kidneys, and eyes. The incidence of NPS is attributed to variations in the LMX1B gene. In this report, we present a novel LMX1B variation identified in a Chinese family affected by NPS. The proband, a 15-year-old
Lu Zhang, Jilong Xiong, Hiu-Ming Li, Xia Li, Xuewen Yu, Yingying Liang, Huili Sun, ShuDong Yang, Mumin Shao   +8 more
openaire   +2 more sources

Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome

Acta Dermato-Venereologica, 2019
Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis.
Satoru Shinkuma, Hideki Nakamura, Manami Maehara, Shota Takashima, Toshifumi Nomura, Yasuyuki Fujita, Satoshi Hasegawa, Kazuko C. Sato-Matsumura, Riichiro Abe, Hiroshi Shimizu   +9 more
doaj   +1 more source

Noggin Over-Expressing Mouse Embryonic Fibroblasts and MS5 Stromal Cells Enhance Directed Differentiation of Dopaminergic Neurons from Human Embryonic Stem Cells.

PLoS ONE, 2015
Directed methods for differentiating human embryonic stem cells (hESCs) into dopaminergic (DA) precursor cells using stromal cells co-culture systems are already well established. However, not all of the hESCs differentiate into DA precursors using these
Mi-Sun Lim, Min-Seop Shin, Soo Young Lee, Yang-Ki Minn, Jeong-Kyu Hoh, Youl-Hee Cho, Dong-Wook Kim, Sang-Hun Lee, Chun-Hyung Kim, Chang-Hwan Park   +9 more
doaj   +1 more source