These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 35379526)

  • 21. Revealing the functions of novel mutations in RAB3GAP1 in Martsolf and Warburg micro syndromes.
    Koparir A; Karatas OF; Yilmaz SS; Suer I; Ozer B; Yuceturk B; Ozen M
    Am J Med Genet A; 2019 Apr; 179(4):579-587. PubMed ID: 30730599
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Skin permeability barrier formation by the ichthyosis-causative gene
    Yamamoto H; Hattori M; Chamulitrat W; Ohno Y; Kihara A
    Proc Natl Acad Sci U S A; 2020 Feb; 117(6):2914-2922. PubMed ID: 31974308
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Comparative profiling and comprehensive quantification of stratum corneum ceramides in humans and mice by LC/MS/MS.
    Kawana M; Miyamoto M; Ohno Y; Kihara A
    J Lipid Res; 2020 Jun; 61(6):884-895. PubMed ID: 32265320
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.
    Maghami F; Tabei SMB; Moravej H; Dastsooz H; Modarresi F; Silawi M; Faghihi MA
    BMC Med Genet; 2018 May; 19(1):86. PubMed ID: 29801479
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Differences in elongation of very long chain fatty acids and fatty acid metabolism between triple-negative and hormone receptor-positive breast cancer.
    Yamashita Y; Nishiumi S; Kono S; Takao S; Azuma T; Yoshida M
    BMC Cancer; 2017 Aug; 17(1):589. PubMed ID: 28851309
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
    Paganini L; Pesenti C; Milani D; Fontana L; Motta S; Sirchia SM; Scuvera G; Marchisio P; Esposito S; Cinnante CM; Tabano SM; Miozzo MR
    Am J Med Genet A; 2018 Jun; 176(6):1427-1431. PubMed ID: 29663667
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern.
    Melnik B; Küster W; Hollmann J; Plewig G; Traupe H
    Clin Genet; 1989 Feb; 35(2):152-6. PubMed ID: 2721024
    [TBL] [Abstract][Full Text] [Related]  

  • 28. ELOVL1 production of C24 acyl-CoAs is linked to C24 sphingolipid synthesis.
    Ohno Y; Suto S; Yamanaka M; Mizutani Y; Mitsutake S; Igarashi Y; Sassa T; Kihara A
    Proc Natl Acad Sci U S A; 2010 Oct; 107(43):18439-44. PubMed ID: 20937905
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of lipids of the stratum corneum by high performance thin layer chromatography and mass spectrometry.
    Jamin EL; Jacques C; Jourdes L; Tabet JC; Borotra N; Bessou-Touya S; Debrauwer L; Duplan H
    Eur J Mass Spectrom (Chichester); 2019 Jun; 25(3):278-290. PubMed ID: 30545248
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Autosomal Dominant Lamellar Ichthyosis Due to a Missense Variant in the Gene NKPD1.
    Komlosi K; Glocker C; Hsu-Rehder HH; Alter S; Kopp J; Hotz A; Zimmer AD; Hausser I; Sandhoff R; Oji V; Fischer J
    J Invest Dermatol; 2024 Apr; ():. PubMed ID: 38642798
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Human epidermal glucosylceramides are major precursors of stratum corneum ceramides.
    Hamanaka S; Hara M; Nishio H; Otsuka F; Suzuki A; Uchida Y
    J Invest Dermatol; 2002 Aug; 119(2):416-23. PubMed ID: 12190865
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Familial hypercholesterolemia. Acceptor splice site (G-->C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-R(Honduras-1) [LDL-R1061(-1) G-->C].
    Yu L; Heere-Ress E; Boucher B; Defesche JC; Kastelein J; Lavoie MA; Genest J
    Atherosclerosis; 1999 Sep; 146(1):125-31. PubMed ID: 10487495
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY; Ali S; Naeem MA; Khan SN; Husnain T; Butt NH; Qazi ZA; Akram J; Riazuddin S; Ayyagari R; Hejtmancik JF; Riazuddin SA
    Mol Vis; 2015; 21():871-82. PubMed ID: 26321862
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency.
    Jameel M; Klar J; Tariq M; Moawia A; Altaf Malik N; Seema Waseem S; Abdullah U; Naeem Khan T; Raininko R; Baig SM; Dahl N
    BMC Med Genet; 2014 Dec; 15():133. PubMed ID: 25496299
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies.
    Takeichi T; Ohno Y; Tanahashi K; Ito Y; Shiraishi K; Utsunomiya R; Yoshida S; Ikeda K; Nomura H; Morizane S; Sayama K; Ogi T; Muro Y; Kihara A; Akiyama M
    J Lipid Res; 2022 Dec; 63(12):100308. PubMed ID: 36332686
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
    Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
    PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
    Alabdulrazzaq F; Alanzi T; Al-Balool HH; Gardham A; Wakeling E; Leitch HG; AlSayed M; Abdulrahim M; Aladwani A; Romito A; Kampe K; Ferdinandusse S; Aboelanine AH; Abdullah A; Alwadani A; Bastaki L; Vaz FM; Bertoli-Avella AM; Marafi D
    Mol Genet Genomic Med; 2023 Dec; 11(12):e2256. PubMed ID: 37592902
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.
    Rajab A; Schuelke M; Gill E; Zwirner A; Seifert F; Morales Gonzalez S; Knierim E
    J Med Genet; 2015 Sep; 52(9):607-11. PubMed ID: 26048982
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.
    Citterio CE; Morales CM; Bouhours-Nouet N; Machiavelli GA; Bueno E; Gatelais F; Coutant R; González-Sarmiento R; Rivolta CM; Targovnik HM
    Mol Cell Endocrinol; 2015 Mar; 404():102-12. PubMed ID: 25633667
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations.
    Gruber R; Rainer G; Weiss A; Udvardi A; Thiele H; Eckl KM; Schupart R; Nürnberg P; Zschocke J; Schmuth M; Volc-Platzer B; Hennies HC
    Br J Dermatol; 2017 Apr; 176(4):1068-1073. PubMed ID: 27449533
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.