Results 211 to 220 of about 1,654,437 (300)

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel <i>TYR</i> Variant. [PDF]

Clin Case Rep
Shihab RN, Hamid RT, Neissi M, Mohammadi-Asl J, Sheikh-Hosseini M, Nekouei E.   +5 more
europepmc   +1 more source

Combined 5‐aminolevulinic acid and ferric ammonium citrate treatment promotes hair follicle growth by activating dermal papilla cells

FEBS Open Bio, EarlyView.
5‐Aminolevulinic acid combined with ferric ammonium citrate (5‐ALA/FAC) stimulates dermal papilla cell activity and promotes hair follicle growth. The treatment enhances ERK and AKT signaling, increases hair‐inductive gene expression, and restores dermal papilla function suppressed by dihydrotestosterone and oxidative stress, resulting in enhanced hair
Han‐Wook Ryu, Eok‐Soo Oh, Sewoon Kim
wiley   +1 more source

Early Onset Heart Failure due to <i>RBM20</i> Variant: A Case Report Emphasizing Genetic Diagnosis and Arrhythmic Risk Stratification. [PDF]

Clin Case Rep
Porras Bueno CO, Balaguera CA, Mariño Correa A, Cáceres Méndez EA.   +3 more
europepmc   +1 more source

Prenatal Diagnosis and Selective Abortion [PDF]

, 1973
Lebacqz, Karen A.
core   +1 more source

Systemic dysregulation of apolipoproteins in amyotrophic lateral sclerosis serum

FEBS Open Bio, EarlyView.
Amyotrophic lateral sclerosis (ALS) is a fatal disease that damages motor neurons. This study found that people with ALS show significant changes in blood fats and the proteins that carry them. Several apolipoproteins were higher, lipid balances were altered, and normal protein–lipid relationships were disrupted.
Finula I. Isik, Russell Pickford, Hannah C. Timmins, Olivier Piguet, Glenda M. Halliday, Matthew C. Kiernan, Woojin Scott Kim   +6 more
wiley   +1 more source

Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities. [PDF]

J Community Genet
Klitzman R, Bezborodko E, Chung WK, Appelbaum PS.   +3 more
europepmc   +1 more source

Mass spectrometry based identification of AMP‐O‐Tris generated by Thermococcus onnurineus Cas10

FEBS Open Bio, EarlyView.
Isolated Thermococcus onnurineus Cas10 generates the noncanonical ATP‐derived product AMP‐O‐Tris while in Tris‐containing buffer as identified via mass spectrometry, revealing relaxed nucleophile selectivity under isolated conditions. These findings suggest that multiprotein Csm complex assembly restricts Cas10 reactivity toward canonical cyclic ...
Su‐Jin Lee, Ga Seul Lee, JinHan Kim, Kwang‐Hyun Park, Seong‐Ryung Go, Jeong Hee Moon, Eui‐Jeon Woo   +6 more
wiley   +1 more source

Epilepsy-associated <i>CHD2</i> missense variants and optimization strategies for genetic diagnosis: a comparative analysis of algorithms. [PDF]

Front Neurol
Gu YJ, Wang PY, Fu QQ, Lai JH, Chen X, Liu XH, Guan BZ.   +6 more
europepmc   +1 more source

Blood‐based proteomic profiling reveals context‐dependent changes in BCL2‐associated signaling during taxane therapy in breast cancer patients

FEBS Open Bio, EarlyView.
Chemotherapy side effects significantly impact cancer survivors' quality of life. Using protein levels in blood samples from breast cancer patients before and after 12 weeks of taxane treatment, we detected treatment‐dependent changes in calcium signaling and aging pathways associated with cancer recurrence.
Saira Munshani, Eiman Y. Ibrahim, Rozalyn L. Rodwin, Leah M. Ferrucci, Kim Blenman, Maryam Lustberg, Barbara E. Ehrlich   +6 more
wiley   +1 more source